ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826115945
Gene: TRPV4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
30475
ClinVar RCV Id:
RCV000023432
RCV000202544
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001170899.1:p.Thr693Ile
CA129251
NM_001177428.1:c.2078C>T