ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580189320
Gene: STUB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1714472
ClinVar RCV Id:
RCV002298966
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280126.1:p.Gly60Glu
CA394112062
NM_001293197.2:c.179G>A