ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826117568
Gene: TRPV4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
245783
ClinVar RCV Id:
RCV000235920
RCV000541580
RCV002379042
RCV003479077
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001170904.1:p.Ser272Leu
CA6780382
NM_001177433.1:c.815C>T