ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916002220
Gene: KCNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
527065
ClinVar RCV Id:
RCV000631784
RCV000852955
RCV001811124
RCV002388010
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257334.1:p.Val47Ile
CA320425428
NM_001270405.3:c.139G>A