ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825148705
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2576198
ClinVar RCV Id:
RCV003322259
RCV003561296
RCV003466059
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000343.2:p.Pro1359Leu
CA5902590
NM_000352.6:c.4076C>T