ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826115377
Gene: TRPV4
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000464061
ClinVar Variation:
409290
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001170899.1:p.Ala217Thr
CA6780485
NM_001177428.1:c.649G>A