ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827604764
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2307381
ClinVar RCV Id:
RCV002879623
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338225.1:p.Leu1164Phe
CA379797987
NM_001351296.2:c.3490C>T