ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305641
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
78011
ClinVar RCV:
RCV000057781
RCV000182125
RCV000204994
RCV002444516
ClinVar Variation:
67115
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Glu284Lys
CA008486
NM_000218.3:c.850G>A