ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825653056
Gene: KCNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2453430
ClinVar RCV Id:
RCV003182885
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121142.1:p.Ala114Val
CA410197982
NM_001127670.4:c.341C>T