ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA277374
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
210069
ClinVar RCV Id:
RCV000194750
RCV002514097
RCV003387795
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000343.2:p.Leu511Pro
CA277373
NM_000352.6:c.1532T>C