Allele Registry

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.

Canonical Allele Identifier: PA300456

Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 182981

ClinVar RCV Id: RCV000161089 RCV000168429 RCV000294881 RCV000492422 RCV000781920 RCV003416030

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000542.1:p.Pro2Leu	CA020518 NM_000551.4:c.5C>T