Canonical Allele Identifier: PA211544
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 67057
ClinVar RCV Id: RCV000057641 RCV000148552 RCV000242195 RCV000859076 RCV001841677 RCV004542725
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000209.2:p.Thr600Met
CA006439
NM_000218.3:c.1799C>T