Canonical Allele Identifier: PA2827594273
Gene: PEX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 420777
ClinVar RCV Id: RCV000480471 RCV001856846
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338065.1:p.Ser597Leu
CA6426593
NM_001351136.2:c.1790C>T