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: PA2826116753

Gene: TRPV4 HGNC NCBI

Linked Data

ClinVar Variation Id: 4992

ClinVar RCV Id: RCV000005280 RCV000202519 RCV001269634 RCV003505079

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001170902.1:p.Arg582Gln	CA117164 NM_001177431.1:c.1745G>A