Canonical Allele Identifier: PA2825242467
Gene: PUS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2077857
ClinVar RCV Id: RCV002985737 RCV003147808
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001002019.1:p.Glu199Lys
CA6884220
NM_001002019.3:c.595G>A