ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA274018
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188836
ClinVar RCV Id:
RCV000169185
RCV000800626
RCV002492687
RCV003468836
RCV001826866
RCV004535147
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274103.1:p.Leu1544Pro
CA274017
NM_001287174.3:c.4631T>C