Canonical Allele Identifier: PA305862
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 53006
ClinVar RCV Id: RCV000046015 RCV000057619 RCV000223686 RCV000477954 RCV000678814 RCV002399406 RCV002504937
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_861463.1:p.Ser439Phe
CA006211
NM_181798.1:c.1316C>T