ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827605313
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
225291
ClinVar RCV Id:
RCV000369588
RCV000490279
RCV000671927
RCV001108196
RCV001108197
RCV001279202
RCV001818510
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338226.1:p.Arg274Gln
CA5903742
NM_001351297.2:c.821G>A