ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA123135
Gene: KCNE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257331.1:p.Asp85Asn
CA123130
NM_001270402.3:c.253G>A