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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:
CA2499216380
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
997733
ClinVar RCV Id:
RCV001293290
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.10145585_10153156del , CM000665.2:g.10145585_10153156del
GRCh38
NC_000003.11:g.10187269_10194840del , CM000665.1:g.10187269_10194840del
GRCh37
NC_000003.10:g.10162269_10169840del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000696153.1:c.341-929_*3191del
ENST00000256474.3:c.341-929_*3191del
NM_000551.4:c.341-929_*3191del
NM_001354723.2:c.*17+2564_*3387del
NM_198156.3:c.340+3398_*3191del
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