Canonical Allele Identifier: PA2825120196
Gene: PEX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 129885
ClinVar RCV Id: RCV000117903 RCV000262649 RCV000435678 RCV001082068 RCV001578657 RCV001835683
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000309.2:p.Trp250Arg
CA154235
NM_000318.3:c.748T>C
CA371556670
NM_000318.3:c.748T>A