ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA214120
Gene: KCNQ1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Val648Ile
CA006603
NM_000218.3:c.1942G>A