ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825147718
Gene: ABCC8
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
227344
ClinVar RCV:
RCV000369588
RCV000490279
RCV000671927
RCV001108196
RCV001108197
RCV001279202
RCV001818510
ClinVar Variation:
225291
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000343.2:p.Arg275Gln
CA5903742
NM_000352.6:c.824G>A