Canonical Allele Identifier: PA2825183137
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2011657
ClinVar RCV Id: RCV002838573
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000457.1:p.Lys497Gln
CA368190416
NM_000466.3:c.1489A>C