Canonical Allele Identifier: PA211521
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 52970
ClinVar RCV Id: RCV000057571 RCV000148545 RCV000182181 RCV000203070 RCV000356516 RCV000656189 RCV000265217 RCV000825350 RCV001841626 RCV002467560 RCV000619428
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000209.2:p.Arg397Trp
CA005482
NM_000218.3:c.1189C>T