Canonical Allele Identifier: PA2828533508
Gene: PEX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 420777

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361578.1:p.Ser555Leu
CA6426593
NM_001374649.2:c.1664C>T