ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139729603
Gene: ABCC8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338224.1:p.Thr548Met
CA5903500
NM_001351295.2:c.1643C>T