Canonical Allele Identifier: PA2827595187
Gene: PEX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 9143
ClinVar RCV Id: RCV000009714 RCV000427819 RCV000723322
ClinVar Variation Id: 2978647
ClinVar RCV Id: RCV003839293
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338067.1:p.Asn504Lys
CA254664
NM_001351138.2:c.1512T>G
CA383737743
NM_001351138.2:c.1512T>A