Canonical Allele Identifier: PA305676
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 67130
ClinVar RCV Id: RCV000057827 RCV000182143 RCV000223841 RCV000466144 RCV002381371 RCV002468561
ClinVar Variation Id: 2129108
ClinVar RCV Id: RCV003040375
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_861463.1:p.Pro193Ser
CA008910
NM_181798.1:c.577C>T
CA2580082604
NM_181798.1:c.576_577delinsTT