ClinGen Allele Registry
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Canonical Allele Identifier:
PA145060
Gene: KCNE2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
78516
ClinVar RCV:
RCV000058374
RCV000222131
RCV001823107
ClinVar Variation:
67620
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_751951.1:p.Ala116Val
CA145058
NM_172201.2:c.347C>T