ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305659
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53140
ClinVar RCV Id:
RCV000057816
RCV000182138
RCV000678812
RCV000619103
RCV000709732
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Tyr188Cys
CA008807
NM_181798.1:c.563A>G