ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA097677
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2576202
ClinVar RCV Id:
RCV003322263
RCV003466060
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000343.2:p.Leu1147Arg
CA379798436
NM_000352.6:c.3440T>G