Canonical Allele Identifier: PA2826115824
Gene: TRPV4 HGNC NCBI

Linked Data

ClinVar Variation Id: 4994
ClinVar RCV Id: RCV000005282 RCV000005283 RCV000202560 RCV000498625 RCV000691603 RCV001618207 RCV002243623 RCV002512802
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001170899.1:p.Arg547His
CA117168
NM_001177428.1:c.1640G>A