Canonical Allele Identifier: PA305788
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 67027
ClinVar RCV Id: RCV000057579 RCV000182185 RCV000586616 RCV001104824 RCV001104825 RCV001104826 RCV001104827 RCV001226314 RCV001841663 RCV004017362
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000209.2:p.Pro448Leu
CA005629
NM_000218.3:c.1343C>T