ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA328207
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67040
ClinVar RCV Id:
RCV000057601
RCV001854180
RCV003319316
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Ala398Val
CA005956
NM_181798.1:c.1193C>T