Canonical Allele Identifier: PA2825243372
Gene: PUS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2069249
ClinVar RCV Id: RCV002962016 RCV003367921
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001002020.1:p.Arg233Cys
CA6884241
NM_001002020.3:c.697C>T