Canonical Allele Identifier: PA305890
Gene: KCNQ1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_861463.1:p.Arg467Ter
NM_181798.1:c.[1393del;1395G>T;1398C>A;14...

NM_181798.1:c.1399C>T