ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA254641
Gene: ABCC8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001274103.1:p.Pro45Leu
NM_001287174.3:c.134C>T