Canonical Allele Identifier: PA110969
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 53003
ClinVar RCV Id: RCV000046012 RCV000057614 RCV000182212 RCV000619418 RCV003591637 RCV002483049 RCV003319308
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000209.2:p.Arg555His
CA006147
NM_000218.3:c.1664G>A