ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825090630
Gene: KCNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3230644
ClinVar RCV Id:
RCV004522759
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000210.2:p.Ala114Ser
CA320425117
NM_000219.5:c.340G>T