Canonical Allele Identifier: PA110849
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 53091
ClinVar RCV Id: RCV000046111 RCV000057741 RCV000255620 RCV002381342 RCV003591648
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000209.2:p.Arg243Cys
CA008011
NM_000218.3:c.727C>T