Canonical Allele Identifier: PA2825242477
Gene: PUS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1918811
ClinVar RCV Id: RCV002602167

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001002019.1:p.Arg206Ser
CA6884225
NM_001002019.3:c.618G>C
CA387298995
NM_001002019.3:c.618G>T