ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826117701
Gene: TRPV4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
241381
ClinVar RCV Id:
RCV000230906
RCV000235250
RCV001173243
RCV002379021
RCV004547612
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001170904.1:p.Arg353Trp
CA6780257
NM_001177433.1:c.1057C>T