Allele Registry

Canonical Allele Identifier: PA916055060

Gene: PMP22 HGNC NCBI

ClinVar RCV:

RCV000008948

RCV000456500

RCV000489163

RCV000622525

RCV001729342

ClinVar Variation:

8433

HGVS (amino-acid)	Matching Registered Transcripts
NP_696997.1:p.Ser72Leu	CA119620 NM_153322.3:c.215C>T