ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827603172
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
550521
ClinVar RCV Id:
RCV000665287
RCV002253545
RCV002253544
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338224.1:p.Phe198del
CA5903817
NM_001351295.2:c.592_594del