Canonical Allele Identifier: PA181121
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 67020
ClinVar RCV Id: RCV000057570 RCV000148543 RCV000154657 RCV000394030 RCV000305127 RCV000394039 RCV000306809 RCV001094051 RCV000852645 RCV002336208 RCV001841659
ClinVar Variation Id: 3075342
ClinVar RCV Id: RCV004015868
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000209.2:p.Lys393Asn
CA005477
NM_000218.3:c.1179G>T
CA379134739
NM_000218.3:c.1179G>C