Canonical Allele Identifier: PA2825183886
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2192383
ClinVar RCV Id: RCV002633168

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000457.1:p.Asp1094Asn
CA161953179
NM_000466.3:c.3280G>A