ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826116283
Gene: TRPV4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
520860
ClinVar RCV Id:
RCV000623486
RCV000645551
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001170902.1:p.Arg172Cys
CA6780495
NM_001177431.1:c.514C>T