Canonical Allele Identifier: PA2825089649
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 405270
ClinVar RCV Id: RCV000457132 RCV001841346 RCV001250549 RCV003227751 RCV002502613 RCV003372716 RCV003736774
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000209.2:p.Thr169Met
CA038071
NM_000218.3:c.506C>T