ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825148922
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1312141
ClinVar RCV Id:
RCV001761362
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000343.2:p.Leu1519Phe
CA379782201
NM_000352.6:c.4555C>T