ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111238
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3122
ClinVar RCV Id:
RCV000003270
RCV000057536
RCV002512696
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Gly345Glu
CA005061
NM_000218.3:c.1034G>A