Canonical Allele Identifier: PA645420958
Gene: KCNQ1 HGNC NCBI
ClinVar RCV:
RCV000467059
ClinVar Variation:
405263
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000209.2:p.Ala283Pro
CA16613511
NM_000218.3:c.847G>C