Allele Registry

Canonical Allele Identifier: PA2830323165

Gene: PMP22 HGNC NCBI

ClinVar RCV:

RCV000790174

RCV000802360

RCV001580546

ClinVar Variation:

637843

HGVS (amino-acid)	Matching Registered Transcripts
NP_696996.1:p.Ser72Trp	CA398268231 NM_153321.3:c.215C>G