ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830390705
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
444243
ClinVar RCV Id:
RCV000513565
RCV001841404
RCV002404324
RCV003318379
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Arg406Gln
CA031441
NM_181798.1:c.1217G>A