Canonical Allele Identifier: PA2825775386
Gene: PEX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 310427
ClinVar RCV Id: RCV000403373 RCV000729311 RCV001252798 RCV001049488 RCV001775113 RCV002307484 RCV002522252
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124496.1:p.Asn483Ser
CA6426487
NM_001131024.2:c.1448A>G