Canonical Allele Identifier: PA111471
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 53031
ClinVar RCV Id: RCV000057655 RCV000415717 RCV000415657 RCV000620808 RCV000627157 RCV001579481 RCV002477154 RCV003155056
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000209.2:p.Pro73Thr
CA006724
NM_000218.3:c.217C>A