ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827605121
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
434042
ClinVar RCV Id:
RCV000503292
RCV003313086
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338225.1:p.Arg1530Cys
CA5902425
NM_001351296.2:c.4588C>T