ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580215994
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2083868
ClinVar RCV Id:
RCV003002828
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338224.1:p.Asp695Asn
CA5903346
NM_001351295.2:c.2083G>A