Canonical Allele Identifier: PA2825120044
Gene: PEX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 834103
ClinVar RCV Id: RCV001034724

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000309.2:p.Val139Leu
CA371557388
NM_000318.3:c.415G>T
CA371557390
NM_000318.3:c.415G>C