ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA260108
Gene: ABCC8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000343.2:p.Gly1484Glu
NM_000352.6:c.4451G>A