ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA256866
Gene: KCNE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001121142.1:p.Thr7Ile
NM_001127670.4:c.20C>T