ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA213465
Gene: ABCC8
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000029268
RCV002243671
RCV002243672
ClinVar Variation:
35621
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000343.2:p.Ile1518Ser
CA213464
NM_000352.6:c.4553T>G