ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826511951
Gene: KCNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
583062
ClinVar RCV Id:
RCV000707299
RCV002466573
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257332.1:p.His112_Ala114dup
CA748860029
NM_001270403.2:c.334_342dup