Canonical Allele Identifier: PA2825182802
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1954385
ClinVar RCV Id: RCV002705574
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000457.1:p.Ser239Leu
CA368200320
NM_000466.3:c.716C>T