Allele Registry

Canonical Allele Identifier: PA220979

Gene: PEX1 HGNC NCBI

ClinVar Allele:

99015

ClinVar RCV:

RCV000078924

RCV000368382

RCV001252811

RCV001277303

RCV003935024

ClinVar Variation:

93108

HGVS (amino-acid)	Matching Registered Transcripts
NP_000457.1:p.Ala931Asp	CA220978 NM_000466.3:c.2792C>A