Canonical Allele Identifier: PA2827593419
Gene: PEX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 289541
ClinVar RCV Id: RCV000262302 RCV000386382 RCV000676016 RCV001082425 RCV003910030
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338064.2:p.Val217Leu
CA6426202
NM_001351135.3:c.649G>C
CA383721611
NM_001351135.3:c.649G>T