Canonical Allele Identifier: PA211520
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 52970
ClinVar RCV Id: RCV000057571 RCV000148545 RCV000182181 RCV000203070 RCV000356516 RCV000656189 RCV000265217 RCV000825350 RCV001841626 RCV002467560 RCV000619428
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_861463.1:p.Arg270Trp
CA005482
NM_181798.1:c.808C>T