ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658665472
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
446775
ClinVar RCV Id:
RCV000517310
RCV003313963
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274103.1:p.Ser1387Phe
CA218408231
NM_001287174.3:c.4160C>T