ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826116243
Gene: TRPV4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
245674
ClinVar RCV Id:
RCV000235717
RCV000537457
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001170902.1:p.Arg126Gln
CA6780532
NM_001177431.1:c.377G>A