ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826115780
Gene: TRPV4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
30469
ClinVar RCV Id:
RCV000023426
RCV000202508
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001170899.1:p.Ser495Tyr
CA259819
NM_001177428.1:c.1484C>A