Canonical Allele Identifier: PA916013692
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 167445
ClinVar RCV Id: RCV000153672 RCV000298239 RCV001328780 RCV001240934 RCV001824124 RCV002516087
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269606.1:p.Met209Ile
CA234519
NM_001282677.2:c.627G>A
CA368200823
NM_001282677.2:c.627G>T
CA368200826
NM_001282677.2:c.627G>C