Canonical Allele Identifier: PA218634
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3128
ClinVar RCV Id: RCV000003276 RCV000057789 RCV000182128 RCV000541920 RCV000621158 RCV001102803 RCV001104722 RCV001841225
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_861463.1:p.Ala173Thr
CA008554
NM_181798.1:c.517G>A