Canonical Allele Identifier: PA252562
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3116
ClinVar RCV Id: RCV000003263 RCV000057808 RCV000182136 RCV001386969 RCV001841222 RCV002444417
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_861463.1:p.Thr185Ile
CA008759
NM_181798.1:c.554C>T