Canonical Allele Identifier: PA2828531643
Gene: PEX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 289541
ClinVar RCV Id: RCV000262302 RCV000386382 RCV000676016 RCV001082425 RCV003910030
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361575.1:p.Val202Leu
CA6426202
NM_001374646.1:c.604G>C
CA383721611
NM_001374646.1:c.604G>T