Allele Registry

Canonical Allele Identifier: PA2826665887

Gene: PEX1 HGNC NCBI

ClinVar Allele:

272958

ClinVar RCV:

RCV000301612

RCV000764729

RCV001855212

ClinVar Variation:

288721

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269607.1:p.Ala709Val	CA4341025 NM_001282678.2:c.2126C>T