ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827605004
Gene: ABCC8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338225.1:p.Arg1420Cys
CA254631
NM_001351296.2:c.4258C>T