ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA306009
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67084
ClinVar RCV Id:
RCV000057707
RCV000182299
RCV000698459
RCV000678947
RCV001841685
RCV002345367
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Arg190Leu
CA007551
NM_000218.3:c.569G>T