ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826115676
Gene: TRPV4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001170899.1:p.Arg417Cys
CA6780254
NM_001177428.1:c.1249C>T