Canonical Allele Identifier: PA2825183863
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2382651
ClinVar RCV Id: RCV002684711
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000457.1:p.Ser1075Tyr
CA4340866
NM_000466.3:c.3224C>A