ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658654858
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
444243
ClinVar RCV Id:
RCV000513565
RCV001841404
RCV002404324
RCV003318379
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Arg533Gln
CA031441
NM_000218.3:c.1598G>A