ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826512215
Gene: KCNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13478
ClinVar RCV Id:
RCV000014421
RCV000603252
RCV000119079
RCV003318541
RCV000471661
RCV004017244
RCV002482866
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257333.1:p.Ser74Leu
CA256871
NM_001270404.3:c.221C>T