Allele Registry

Canonical Allele Identifier: PA645408702

Gene: PEX1 HGNC NCBI

ClinVar Allele:

272958

ClinVar RCV:

RCV000301612

RCV000764729

RCV001855212

ClinVar Variation:

288721

HGVS (amino-acid)	Matching Registered Transcripts
NP_000457.1:p.Ala917Val	CA4341025 NM_000466.3:c.2750C>T