Canonical Allele Identifier: PA645408715
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 360915
ClinVar RCV Id: RCV000285353 RCV000733368 RCV001262592 RCV001507178 RCV003902401
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000457.1:p.Met1125Leu
CA4340845
NM_000466.3:c.3373A>T
CA368163675
NM_000466.3:c.3373A>C