Canonical Allele Identifier: PA2826665378
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1407569
ClinVar RCV Id: RCV001937821

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269607.1:p.Ser119Arg
CA161973494
NM_001282678.2:c.357C>G
CA368198683
NM_001282678.2:c.357C>A
CA368198694
NM_001282678.2:c.355A>C