ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827605505
Gene: ABCC8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338226.1:p.Arg518Cys
CA5903533
NM_001351297.2:c.1552C>T