ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645472342
Gene: KCNE2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000439315
RCV000620110
RCV001088045
ClinVar Variation:
379226
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_751951.1:p.Ser106Leu
CA10013440
NM_172201.2:c.317C>T