ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826116020
Gene: TRPV4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
18430
ClinVar RCV Id:
RCV000005298
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001170899.1:p.Pro752Ala
CA117187
NM_001177428.1:c.2254C>G