ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826115670
Gene: TRPV4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
521109
ClinVar RCV Id:
RCV000624146
RCV000765041
RCV000685033
RCV003227807
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001170899.1:p.Leu412Arg
CA6780259
NM_001177428.1:c.1235T>G