Canonical Allele Identifier: PA2573185863
Gene: PEX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1489114
ClinVar RCV Id: RCV001980463

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165558.2:p.Lys219Asn
CA371556860
NM_001172087.2:c.657G>T
CA371556861
NM_001172087.2:c.657G>C