Canonical Allele Identifier: PA2826664711
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2158059
ClinVar RCV Id: RCV003069568
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269606.1:p.Met248Leu
CA368200178
NM_001282677.2:c.742A>T
CA368200179
NM_001282677.2:c.742A>C