ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826830443
Gene: STUB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1723795
ClinVar RCV Id:
RCV002306356
RCV003987995
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280126.1:p.Glu107Lys
CA394112831
NM_001293197.2:c.319G>A