Canonical Allele Identifier: PA916030776
Gene: PEX5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338064.1:p.Val238Leu
CA6426202
NM_001351135.1:c.712G>C
CA383721611
NM_001351135.1:c.712G>T