Canonical Allele Identifier: PA111341
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3119
ClinVar RCV Id: RCV000003266 RCV000057769 RCV000182120 RCV000620696 RCV001192509
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000209.2:p.Leu273Phe
CA008331
NM_000218.3:c.817C>T