Canonical Allele Identifier: PA2825242447
Gene: PUS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 307702
ClinVar RCV Id: RCV000348603
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001002019.1:p.Arg187Gln
CA6884208
NM_001002019.3:c.560G>A