ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825090500
Gene: KCNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
527065
ClinVar RCV Id:
RCV000631784
RCV000852955
RCV001811124
RCV002388010
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000210.2:p.Val47Ile
CA320425428
NM_000219.5:c.139G>A