Canonical Allele Identifier: PA245942
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 197673
ClinVar RCV Id: RCV000178773 RCV000764731 RCV002516781
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000457.1:p.Thr222Ile
CA245941
NM_000466.3:c.665C>T