ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827604787
Gene: ABCC8
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002894028
ClinVar Variation:
2028930
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338225.1:p.Arg1182Leu
CA5902785
NM_001351296.2:c.3545G>T