Canonical Allele Identifier: PA1139675754
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 971689
ClinVar RCV Id: RCV001247525 RCV001250066 RCV003393917 RCV003481031 RCV004034895
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000457.1:p.Val734Ile
CA4341198
NM_000466.3:c.2200G>A