Canonical Allele Identifier: PA2826666084
Gene: PEX1 HGNC NCBI
ClinVar RCV:
RCV000633315
ClinVar Variation:
528227
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269607.1:p.Ala1029Glu
CA368159552
NM_001282678.2:c.3086C>A