Canonical Allele Identifier: PA2826665523
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 256217
ClinVar RCV Id: RCV000242569 RCV001558457 RCV000956500 RCV001507153 RCV002494711
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269607.1:p.Trp299Cys
CA4341378
NM_001282678.2:c.897G>C
CA368190233
NM_001282678.2:c.897G>T