Canonical Allele Identifier: PA2826665531
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1575527
ClinVar RCV Id: RCV002075213
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269607.1:p.Leu314Phe
CA4341374
NM_001282678.2:c.942G>C
CA368189973
NM_001282678.2:c.942G>T