Allele Registry

Canonical Allele Identifier: PA2827328767

Gene: PMP22 HGNC NCBI

ClinVar RCV:

RCV000008948

RCV000456500

RCV000489163

RCV000622525

RCV001729342

ClinVar Variation:

8433

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317072.1:p.Ser72Leu	CA119620 NM_001330143.2:c.215C>T