Canonical Allele Identifier: PA2826954041
Gene: PEX6 HGNC NCBI

Linked Data

ClinVar Variation Id: 500941
ClinVar RCV Id: RCV000597689 RCV001049098 RCV001333352 RCV001834899 RCV004553332
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001303242.1:p.Ala498Val
CA3811225
NM_001316313.2:c.1493C>T