ClinGen Allele Registry
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Canonical Allele Identifier:
PA916018793
Gene: STUB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
212325
ClinVar RCV Id:
RCV000194931
RCV000989407
RCV002517140
RCV002517982
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280126.1:p.Lys73Gln
CA209422
NM_001293197.2:c.217A>C