Canonical Allele Identifier: PA2825182952
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1492518
ClinVar RCV Id: RCV001981017
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000457.1:p.Gln367Lys
CA4341492
NM_000466.3:c.1099C>A