ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827605498
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_001338226.1:p.Leu510Pro
CA277373
NM_001351297.2:c.1529T>C