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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2499216378
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
997731
ClinVar RCV Id:
RCV001293288
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.10145132_10153366del , CM000665.2:g.10145132_10153366del
GRCh38
NC_000003.11:g.10186816_10195050del , CM000665.1:g.10186816_10195050del
GRCh37
NC_000003.10:g.10161816_10170050del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000696153.1:c.341-1382_*3401del
ENST00000256474.3:c.341-1382_*3401del
NM_000551.4:c.341-1382_*3401del
NM_001354723.2:c.*17+2111_*3597del
NM_198156.3:c.340+2945_*3401del
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