ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825148704
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1339207
ClinVar RCV Id:
RCV001823661
RCV004536349
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000343.2:p.Asp1354Asn
CA379790603
NM_000352.6:c.4060G>A