Canonical Allele Identifier: PA112215
Gene: PEX1 HGNC NCBI
ClinVar RCV:
RCV000633315
ClinVar Variation:
528227
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000457.1:p.Ala1237Glu
CA368159552
NM_000466.3:c.3710C>A