Allele Registry

Canonical Allele Identifier: PA2827328788

Gene: PMP22 HGNC NCBI

ClinVar RCV:

RCV001385499

ClinVar Variation:

1072721

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317072.1:p.Ser79Phe	CA398268094 NM_001330143.2:c.236C>T