ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573071015
Gene: ABCC8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338224.1:p.Arg847Trp
CA5903132
NM_001351295.2:c.2539C>T