ClinGen Allele Registry
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Canonical Allele Identifier:
PA916030908
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288731
ClinVar RCV Id:
RCV000339446
RCV000664136
RCV002282111
RCV001810444
RCV002494880
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338224.1:p.Glu1348Lys
CA5902631
NM_001351295.2:c.4042G>A