Canonical Allele Identifier: PA2826665661
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_001269607.1:p.Val444Leu
CA368183825
NM_001282678.2:c.1330G>T
CA368183830
NM_001282678.2:c.1330G>C