Allele Registry

Canonical Allele Identifier: PA2830323205

Gene: PMP22 HGNC NCBI

ClinVar RCV:

RCV001385499

ClinVar Variation:

1072721

HGVS (amino-acid)	Matching Registered Transcripts
NP_696996.1:p.Ser79Phe	CA398268094 NM_153321.3:c.236C>T