ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111046
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53037
ClinVar RCV Id:
RCV000057661
RCV001312785
RCV002453355
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Glu115Gly
CA006838
NM_000218.3:c.344A>G