ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826116198
Gene: TRPV4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
216734
ClinVar RCV Id:
RCV000199358
RCV000413068
RCV002433891
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001170902.1:p.Ser60Leu
CA338597
NM_001177431.1:c.179C>T