ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826117929
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_001170904.1:p.Arg487His
CA117168
NM_001177433.1:c.1460G>A