Canonical Allele Identifier: PA916013806
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 360913
ClinVar RCV Id: RCV000282489 RCV001770284 RCV002523604 RCV002523603
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269607.1:p.Thr981Ile
CA4340796
NM_001282678.2:c.2942C>T