ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826115339
Gene: TRPV4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001170899.1:p.Glu183Lys
CA117197
NM_001177428.1:c.547G>A