ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA326096
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
52969
ClinVar RCV Id:
RCV000045973
RCV000057569
RCV000218718
RCV001841625
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Lys393Met
CA005470
NM_000218.3:c.1178A>T