Canonical Allele Identifier: PA2825182900
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1407569
ClinVar RCV Id: RCV001937821

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000457.1:p.Ser327Arg
CA161973494
NM_000466.3:c.981C>G
CA368198683
NM_000466.3:c.981C>A
CA368198694
NM_000466.3:c.979A>C