ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA117199
Gene: TRPV4
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000005306
RCV000202438
RCV001851965
ClinVar Variation:
18437
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_067638.3:p.Glu183Lys
CA117197
NM_021625.5:c.547G>A