Canonical Allele Identifier: PA916078566
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 653086
ClinVar RCV Id: RCV000808784

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_861463.1:p.Val45Leu
CA379129862
NM_181798.1:c.133G>C
CA379129863
NM_181798.1:c.133G>T