ClinGen Allele Registry
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Canonical Allele Identifier:
PA254638
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_000343.2:p.Ser1386del
CA254637
NM_000352.6:c.4157_4159del