ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827605940
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1729810
ClinVar RCV Id:
RCV002326137
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338226.1:p.His1096Tyr
CA379801445
NM_001351297.2:c.3286C>T