Canonical Allele Identifier: PA279185
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 217428
ClinVar RCV Id: RCV000201290 RCV001075286 RCV001810437 RCV003417729 RCV002517304
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000457.1:p.Leu705Trp
CA279184
NM_000466.3:c.2114T>G