Canonical Allele Identifier: PA2573169749
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1446912
ClinVar RCV Id: RCV001987958
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000457.1:p.Pro1222Leu
CA4340759
NM_000466.3:c.3665C>T