Canonical Allele Identifier: PA2580116397
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2194576
ClinVar RCV Id: RCV002647453

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000457.1:p.Ile640Leu
CA4341254
NM_000466.3:c.1918A>T
CA368184166
NM_000466.3:c.1918A>C