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: PA2742030548

Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 2952181

ClinVar RCV Id: RCV003815332

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_937799.1:p.Glu46Asp	CA351748124 NM_198156.3:c.138G>C CA351748127 NM_198156.3:c.138G>T