Canonical Allele Identifier: PA2580116623
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2184695
ClinVar RCV Id: RCV002632299
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000457.1:p.Leu787Phe
CA368177410
NM_000466.3:c.2359C>T