Canonical Allele Identifier: PA2573169722
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1494928
ClinVar RCV Id: RCV002015133
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000457.1:p.Arg798Cys
CA4341140
NM_000466.3:c.2392C>T