Canonical Allele Identifier: PA645408705
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 282809
ClinVar RCV Id: RCV000304199 RCV000311034 RCV001240601 RCV003930068
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000457.1:p.Arg948Trp
CA4340995
NM_000466.3:c.2842C>T