ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111164
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3115
ClinVar RCV Id:
RCV000003262
RCV000057797
RCV000182132
ClinVar Variation Id:
67123
ClinVar RCV Id:
RCV000057798
RCV003159095
RCV003317071
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Gly306Arg
CA008634
NM_000218.3:c.916G>A
CA008640
NM_000218.3:c.916G>C