Canonical Allele Identifier: PA2573070224
Gene: PUS7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1329591
ClinVar RCV Id: RCV001799899

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305092.1:p.Met651Ile
CA368785038
NM_001318163.1:c.1953G>T
CA368785039
NM_001318163.1:c.1953G>C
CA368785040
NM_001318163.1:c.1953G>A