ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741864979
Gene: ABCC8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338224.1:p.Pro1435Leu
CA379786862
NM_001351295.2:c.4304C>T