Canonical Allele Identifier: PA111218
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 53152
ClinVar RCV Id: RCV000046184 RCV000057832 RCV000182150 RCV001248782 RCV002371889
ClinVar Variation Id: 660595
ClinVar RCV Id: RCV000817822
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000209.2:p.Gly325Arg
CA008972
NM_000218.3:c.973G>A
CA379133027
NM_000218.3:c.973G>C