ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305554
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53077
ClinVar RCV Id:
RCV000057718
RCV000182091
RCV000620936
RCV001379267
RCV002483052
RCV003236664
RCV003492374
RCV003591645
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Asp202Asn
CA007717
NM_000218.3:c.604G>A