Canonical Allele Identifier: PA2825242448
Gene: PUS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 307701
ClinVar RCV Id: RCV000281975 RCV001277397 RCV001354830 RCV002520798
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001002019.1:p.Arg187Trp
CA6884207
NM_001002019.3:c.559C>T