ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830323429
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2913861
ClinVar RCV Id:
RCV003740999
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_696996.1:p.Leu147Pro
CA398739523
NM_153321.3:c.440T>C