Canonical Allele Identifier: PA913193722
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 593803
ClinVar RCV Id: RCV000728943
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000457.1:p.Val652Leu
CA368183825
NM_000466.3:c.1954G>T
CA368183830
NM_000466.3:c.1954G>C