Allele Registry

Canonical Allele Identifier: PA110419

Gene: PMP22 HGNC NCBI

ClinVar Allele:

23468

ClinVar RCV:

RCV000008941

RCV002512923

ClinVar Variation:

8429

HGVS (amino-acid)	Matching Registered Transcripts
NP_000295.1:p.Ser79Cys	CA254385 NM_000304.4:c.236C>G