Canonical Allele Identifier: PA111091
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 53052
ClinVar RCV Id: RCV000046066 RCV000057684 RCV000234807 RCV000223900 RCV000588586 RCV001841646
ClinVar Variation Id: 53053
ClinVar RCV Id: RCV000057685 RCV000182077 RCV000618982 RCV000627154
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000209.2:p.Gly168Arg
CA007263
NM_000218.3:c.502G>A
CA007272
NM_000218.3:c.502G>C