Canonical Allele Identifier: PA2825183219
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1362213
ClinVar RCV Id: RCV001900071
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000457.1:p.Leu556Phe
CA368188209
NM_000466.3:c.1668G>T
CA368188214
NM_000466.3:c.1668G>C