ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826116300
Gene: TRPV4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448712
ClinVar RCV Id:
RCV000518590
RCV000645545
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001170902.1:p.Arg185Cys
CA6780482
NM_001177431.1:c.553C>T