ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830390225
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2575071
ClinVar RCV Id:
RCV003319968
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Gln232_Lys235del
CA2580615602
NM_181798.1:c.696_707del