ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826116389
Gene: TRPV4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
18434
ClinVar RCV Id:
RCV000005302
RCV000202563
RCV000805229
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001170902.1:p.Glu244Lys
CA117193
NM_001177431.1:c.730G>A