ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057576655
Gene: ABCC8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338226.1:p.Ser772Leu
CA379809589
NM_001351297.2:c.2315C>T