ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305574
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000182102
RCV000853596
RCV001852301
ClinVar Variation:
200820
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Leu109Pro
CA007943
NM_181798.1:c.326T>C