ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825000836
Gene: ABCC8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
ENSP00000374467.4:p.Phe1387del
CA248485
ENST00000389817.8:c.4160_4162del