ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827605128
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
556519
ClinVar RCV Id:
RCV000672538
RCV000710392
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338225.1:p.Ala1536Val
CA5902421
NM_001351296.2:c.4607C>T