Canonical Allele Identifier: PA2573194168
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1441026
ClinVar RCV Id: RCV001979003
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269607.1:p.Leu953Phe
CA4340810
NM_001282678.2:c.2859G>C
CA368161962
NM_001282678.2:c.2859G>T