ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA207380
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
210068
ClinVar RCV Id:
RCV000193705
RCV000303097
RCV000396751
RCV000360233
RCV001279195
RCV001336811
RCV001546216
RCV002514096
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274103.1:p.Ile462Val
CA207378
NM_001287174.3:c.1384A>G