Canonical Allele Identifier: PA2573065766
Gene: PEX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 420777
ClinVar RCV Id: RCV000480471 RCV001856846
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124495.1:p.Ser615Leu
CA6426593
NM_001131023.2:c.1844C>T