ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499250653
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1034174
ClinVar RCV Id:
RCV001336813
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338224.1:p.Ser1075Asn
CA5902908
NM_001351295.2:c.3224G>A