ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA123133
Gene: KCNE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000210.2:p.Asp85Asn
CA123130
NM_000219.5:c.253G>A