ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826116012
Gene: TRPV4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
18435
ClinVar RCV Id:
RCV000005304
RCV000005303
RCV000023424
RCV000202566
RCV001331193
RCV001549550
RCV001851964
RCV001823100
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001170899.1:p.Glu750Lys
CA117195
NM_001177428.1:c.2248G>A