ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA231711
Gene: KCNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
132666
ClinVar RCV Id:
RCV000119078
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121142.1:p.Ser74Ala
CA231707
NM_001127670.4:c.220T>G