Canonical Allele Identifier: PA1139676198
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 910361
ClinVar RCV Id: RCV001162083
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000457.1:p.Leu999Ile
CA368167392
NM_000466.3:c.2995C>A