ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA252571
Gene: KCNQ1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_861463.1:p.Leu146Phe
NM_181798.1:c.436C>T