Canonical Allele Identifier: PA2826666105
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 252486
ClinVar RCV Id: RCV000239086 RCV000886828 RCV001507190 RCV003939908
ClinVar Variation Id: 1719805
ClinVar RCV Id: RCV002303990
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269607.1:p.Ser1062Arg
CA4340719
NM_001282678.2:c.3186T>A
CA4340720
NM_001282678.2:c.3186T>G
CA368158385
NM_001282678.2:c.3184A>C