ClinGen Allele Registry
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Canonical Allele Identifier:
PA252559
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
18154
78019
ClinVar RCV:
RCV000003262
RCV000057797
RCV000057798
RCV000182132
RCV003159095
RCV003317071
ClinVar Variation:
3115
67123
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Gly179Arg
CA008634
NM_181798.1:c.535G>A
CA008640
NM_181798.1:c.535G>C