Canonical Allele Identifier: PA2825182880
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1366034
ClinVar RCV Id: RCV001944485

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000457.1:p.Phe315Leu
CA368198846
NM_000466.3:c.945T>G
CA368198847
NM_000466.3:c.945T>A
CA368198856
NM_000466.3:c.943T>C