ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826116015
Gene: TRPV4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
18431
ClinVar RCV Id:
RCV000005299
RCV000202484
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001170899.1:p.Pro752Ser
CA117189
NM_001177428.1:c.2254C>T