ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916002217
Gene: KCNE1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000612549
RCV000786138
RCV002385950
ClinVar Variation:
517181
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257334.1:p.Tyr46Cys
CA410198408
NM_001270405.3:c.137A>G