Canonical Allele Identifier: PA2825184035
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1168299
ClinVar RCV Id: RCV001518444

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000457.1:p.Val1176Leu
CA4340801
NM_000466.3:c.3526G>T
CA368161689
NM_000466.3:c.3526G>C