Canonical Allele Identifier: PA2825184059
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2127621
ClinVar RCV Id: RCV003055591

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000457.1:p.Gln1195His
CA368161204
NM_000466.3:c.3585A>T
CA368161218
NM_000466.3:c.3585A>C