ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830286034
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_671737.1:p.Leu399Arg
CA6780259
NM_147204.2:c.1196T>G