Canonical Allele Identifier: PA356440
Gene: KCNQ1 HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000209.2:p.Pro448Gln
NM_000218.3:c.[1343del;1344dup]

NM_000218.3:c.[1343del;1345dup]

NM_000218.3:c.1343C>A