ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA220125
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
18449
ClinVar RCV Id:
RCV000009655
RCV000077845
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274103.1:p.Gly716Val
CA220124
NM_001287174.3:c.2147G>T