Canonical Allele Identifier: PA218590
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 67030
ClinVar RCV Id: RCV000057583 RCV000284895 RCV000246256 RCV000337547 RCV000355198 RCV000297971 RCV000398200 RCV000764975 RCV001255594 RCV001841666 RCV003448257
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_861463.1:p.Arg325Gln
CA005679
NM_181798.1:c.974G>A