ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499250657
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1065615
ClinVar RCV Id:
RCV001376163
RCV001820080
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338224.1:p.Ala1479Thr
CA218407557
NM_001351295.2:c.4435G>A