Canonical Allele Identifier: PA111081
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 53120
ClinVar RCV Id: RCV000057783 RCV000455757 RCV001102800 RCV001102798 RCV001852979 RCV004017355 RCV001102799 RCV001102801 RCV001841657 RCV002504941
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000209.2:p.Glu290Lys
CA008514
NM_000218.3:c.868G>A