ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826733850
Gene: ABCC8
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002894028
ClinVar Variation:
2028930
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274103.1:p.Arg1183Leu
CA5902785
NM_001287174.3:c.3548G>T