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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:
CA2581463472
Gene: VHL
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.10141635_10149787del , CM000665.2:g.10141635_10149787del
GRCh38
NC_000003.11:g.10183319_10191471del , CM000665.1:g.10183319_10191471del
GRCh37
NC_000003.10:g.10158319_10166471del
NCBI36
NG_008212.3:g.5001_13153del , LRG_322:g.5001_13153del
Transcript Alleles
HGVS
Amino-acid change
ENST00000256474.2:c.-213_464del
NM_000551.3:c.-213_464del , LRG_322t1:c.-213_464del
NM_198156.2:c.-213_341del
NM_001354723.1:c.-213_*18del
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