Canonical Allele Identifier: PA111206
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 53142
ClinVar RCV Id: RCV000057818 RCV000182139 RCV001368547 RCV003327365
ClinVar Variation Id: 53143
ClinVar RCV Id: RCV000057819
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000209.2:p.Gly316Arg
CA008823
NM_000218.3:c.946G>A
CA008832
NM_000218.3:c.946G>C