ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139730053
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
989956
ClinVar RCV Id:
RCV001277864
RCV002245922
RCV002245921
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338224.1:p.Gly1397Ala
CA379788591
NM_001351295.2:c.4190G>C