Canonical Allele Identifier: PA2825182955
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1460928
ClinVar RCV Id: RCV001965611

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000457.1:p.Lys368Asn
CA368198044
NM_000466.3:c.1104A>T
CA368198046
NM_000466.3:c.1104A>C