Canonical Allele Identifier: PA111248
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 53009
ClinVar RCV Id: RCV000057622 RCV000250706 RCV000505735 RCV000678815 RCV001192510 RCV002496701
ClinVar Variation Id: 570319
ClinVar RCV Id: RCV000691158
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000209.2:p.Gly568Arg
CA006232
NM_000218.3:c.1702G>A
CA379139292
NM_000218.3:c.1702G>C