ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916002250
Gene: KCNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
132660
ClinVar RCV Id:
RCV000119072
RCV000156530
RCV000253612
RCV000479909
RCV000705214
RCV003227641
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257334.1:p.Arg67Cys
CA185017
NM_001270405.3:c.199C>T