Canonical Allele Identifier: PA328188
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 67025
ClinVar RCV Id: RCV000057577 RCV001500920 RCV001841661
ClinVar Variation Id: 926541
ClinVar RCV Id: RCV001841073 RCV002069062
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000209.2:p.Asp446Glu
CA005607
NM_000218.3:c.1338C>G
CA379135082
NM_000218.3:c.1338C>A