ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA213472
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
35623
ClinVar RCV Id:
RCV000501531
RCV000984138
RCV002243674
RCV002243673
RCV001762057
RCV003234921
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274103.1:p.Val1540Met
CA213470
NM_001287174.3:c.4618G>A