ClinGen Allele Registry
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Canonical Allele Identifier:
PA254639
Gene: ABCC8
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000009668
RCV000516204
RCV002243632
RCV002243633
ClinVar Variation:
9100
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274103.1:p.Ser1387del
CA254637
NM_001287174.3:c.4160_4162del