ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111341
Gene: KCNQ1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000209.2:p.Leu273Phe
NM_000218.3:c.817C>T