ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827604061
Gene: ABCC8
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001279204
RCV002480912
ClinVar Variation:
991062
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338225.1:p.Trp231Ser
CA379778687
NM_001351296.2:c.692G>C