Canonical Allele Identifier: PA2825243263
Gene: PUS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 883356
ClinVar RCV Id: RCV001113695
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001002020.1:p.Lys185Arg
CA6884206
NM_001002020.3:c.554A>G