ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830390422
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
518535
ClinVar RCV Id:
RCV000621150
RCV000818634
RCV001841785
RCV002281118
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Pro273Ala
CA379134775
NM_181798.1:c.817C>G