ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499229868
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001658567
ClinVar Variation:
1252266
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Val648Leu
CA379140477
NM_000218.3:c.1942G>C