Canonical Allele Identifier: PA2826664684
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 594510
ClinVar RCV Id: RCV000729811
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269606.1:p.Met210Ile
CA368200810
NM_001282677.2:c.630G>T
CA368200811
NM_001282677.2:c.630G>C
CA368200813
NM_001282677.2:c.630G>A