Canonical Allele Identifier: PA328321
Gene: KCNQ1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000209.2:p.Trp248Cys
NM_000218.3:c.744G>C

NM_000218.3:c.744G>T