ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305873
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67053
ClinVar RCV Id:
RCV000057629
RCV000182220
RCV000557272
RCV001841675
RCV002054904
RCV003298107
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Arg583His
CA006304
NM_000218.3:c.1748G>A