Canonical Allele Identifier: PA2826665483
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 360928
ClinVar RCV Id: RCV000405009 RCV000728937 RCV001277057 RCV003970059
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269607.1:p.Glu252Asp
CA4341409
NM_001282678.2:c.756A>C
CA368191426
NM_001282678.2:c.756A>T