ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA231721
Gene: KCNE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121142.1:p.Tyr81Phe
CA231717
NM_001127670.4:c.242A>T