Allele Registry

Canonical Allele Identifier: PA916054987

Gene: PMP22 HGNC NCBI

ClinVar RCV:

RCV000008949

RCV000168060

RCV000622783

RCV000790177

RCV001195890

RCV002900303

ClinVar Variation:

8434

2044604

HGVS (amino-acid)	Matching Registered Transcripts
NP_696997.1:p.His12Gln	CA119622 NM_153322.3:c.36C>A CA398271729 NM_153322.3:c.36C>G