ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305640
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67115
ClinVar RCV Id:
RCV000057781
RCV000182125
RCV000204994
RCV002444516
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Glu157Lys
CA008486
NM_181798.1:c.469G>A