Canonical Allele Identifier: PA2573185783
Gene: PEX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1493643
ClinVar RCV Id: RCV001986635

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165558.2:p.Val76Leu
CA371557817
NM_001172087.2:c.226G>C
CA371557818
NM_001172087.2:c.226G>T