Canonical Allele Identifier: PA2825242445
Gene: PUS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 883356
ClinVar RCV Id: RCV001113695
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001002019.1:p.Lys185Arg
CA6884206
NM_001002019.3:c.554A>G