ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827604940
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
434046
ClinVar RCV Id:
RCV000504191
RCV002244970
RCV002274043
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338225.1:p.Pro1370Leu
CA379790212
NM_001351296.2:c.4109C>T