ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305695
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
200830
ClinVar RCV Id:
RCV000182148
RCV001852304
RCV002372112
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Thr195Arg
CA008952
NM_181798.1:c.584C>G