Canonical Allele Identifier: PA112245
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 7516
ClinVar RCV Id: RCV000007946 RCV000022416 RCV000032927 RCV000078922 RCV000345695 RCV000661947 RCV000763596 RCV000791271 RCV001004322 RCV001074120 RCV001376560 RCV001266794 RCV001731280 RCV003398462
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000457.1:p.Gly843Asp
CA220977
NM_000466.3:c.2528G>A