Allele Registry

Canonical Allele Identifier: PA2825183769

Gene: PEX1 HGNC NCBI

ClinVar RCV:

RCV001983271

ClinVar Variation:

1461213

HGVS (amino-acid)	Matching Registered Transcripts
NP_000457.1:p.Cys1005Ser	CA368167329 NM_000466.3:c.3014G>C CA368167333 NM_000466.3:c.3013T>A