Canonical Allele Identifier: PA112260
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 7517
ClinVar RCV Id: RCV000007949 RCV000763597 RCV001248383 RCV003473054 RCV003480024
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000457.1:p.Leu664Pro
CA254194
NM_000466.3:c.1991T>C