Canonical Allele Identifier: PA645420546
Gene: KCNQ1 HGNC NCBI
ClinVar RCV:
RCV000240629
ClinVar Variation:
254159
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000209.2:p.Pro117Ser
CA10586353
NM_000218.3:c.349C>T