Canonical Allele Identifier: PA2827791040
Gene: STAMBP HGNC NCBI

Linked Data

ClinVar Variation Id: 50793
ClinVar RCV Id: RCV000043574 RCV000426675
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340897.1:p.Arg38Cys
CA263227
NM_001353968.2:c.112C>T