Canonical Allele Identifier: PA2825243229
Gene: PUS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2428173
ClinVar RCV Id: RCV003117144

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001002020.1:p.Asn166Lys
CA6884198
NM_001002020.3:c.498C>G
CA387298738
NM_001002020.3:c.498C>A