Canonical Allele Identifier: PA2826665252
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2127621
ClinVar RCV Id: RCV003055591
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269606.1:p.Gln1138His
CA368161204
NM_001282677.2:c.3414A>T
CA368161218
NM_001282677.2:c.3414A>C