Canonical Allele Identifier: PA645408710
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 288256
ClinVar RCV Id: RCV000298949 RCV000345924 RCV000766589 RCV001277301 RCV003977800
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000457.1:p.Val1011Met
CA4340911
NM_000466.3:c.3031G>A