ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108525
Gene: TRPV4
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000202474
ClinVar Variation:
126469
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_067638.3:p.Leu596Pro
CA347726
NM_021625.5:c.1787T>C