Canonical Allele Identifier: PA2826665647
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2194576
ClinVar RCV Id: RCV002647453
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269607.1:p.Ile432Leu
CA4341254
NM_001282678.2:c.1294A>T
CA368184166
NM_001282678.2:c.1294A>C