ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827604377
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
592095
ClinVar RCV Id:
RCV000723284
RCV002267021
RCV002267020
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338225.1:p.Glu627Lys
CA5903404
NM_001351296.2:c.1879G>A