ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826116592
Gene: TRPV4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246534
ClinVar RCV Id:
RCV000235458
RCV000344778
RCV000287694
RCV000284090
RCV000341387
RCV000405687
RCV000645552
RCV003320357
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001170902.1:p.Arg430Cys
CA6780254
NM_001177431.1:c.1288C>T