ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA248486
Gene: ABCC8
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000177757
RCV000201913
RCV000587070
RCV001277181
RCV002243861
RCV002243862
RCV003462282
RCV004537448
ClinVar Variation:
196880
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000343.2:p.Phe1387del
CA248485
NM_000352.6:c.4160_4162del