ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645420763
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
393006
ClinVar RCV Id:
RCV000442048
RCV001205787
RCV002418339
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Leu266Arg
CA16606299
NM_000218.3:c.797T>G