ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826115453
Gene: TRPV4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001170899.1:p.Arg269His
CA259821
NM_001177428.1:c.806G>A