Canonical Allele Identifier: PA916013786
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 594510
ClinVar RCV Id: RCV000729811

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269607.1:p.Met2Ile
CA368200810
NM_001282678.2:c.6G>T
CA368200811
NM_001282678.2:c.6G>C
CA368200813
NM_001282678.2:c.6G>A