Canonical Allele Identifier: PA2499245392
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1043155
ClinVar RCV Id: RCV001347225

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269607.1:p.Asp76Glu
CA368199417
NM_001282678.2:c.228C>G
CA368199419
NM_001282678.2:c.228C>A