ClinGen Allele Registry
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Canonical Allele Identifier:
PA916078399
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_671737.1:p.Ser319Leu
CA6780382
NM_147204.2:c.956C>T