ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830323466
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
580036
ClinVar RCV Id:
RCV000703465
RCV000857017
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_696996.1:p.Arg159Pro
CA398739429
NM_153321.3:c.476G>C