ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499250654
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1210344
ClinVar RCV Id:
RCV001580619
RCV001580618
RCV002266006
RCV002569104
RCV002495927
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338224.1:p.Val1177Ile
CA5902800
NM_001351295.2:c.3529G>A