Canonical Allele Identifier: PA2580116879
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2102972
ClinVar RCV Id: RCV003019793
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000457.1:p.Ser984Asn
CA368167691
NM_000466.3:c.2951G>A