ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573071019
Gene: ABCC8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338224.1:p.Ala999Thr
CA5902968
NM_001351295.2:c.2995G>A