ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA206066
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
210076
ClinVar RCV Id:
RCV000192916
RCV001640282
RCV002051825
RCV002500586
RCV002517038
RCV003987437
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274103.1:p.Arg1183Trp
CA206064
NM_001287174.3:c.3547C>T