Allele Registry

Canonical Allele Identifier: PA2826623502

Gene: PMP22 HGNC NCBI

ClinVar Allele:

415537

ClinVar RCV:

RCV000490010

RCV001348768

RCV002455951

ClinVar Variation:

426791

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268384.1:p.Pro122Leu	CA8403316 NM_001281455.2:c.365C>T