ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830323441
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8439
ClinVar RCV Id:
RCV000008954
RCV000594940
RCV001221866
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_696996.1:p.Gly150Cys
CA119624
NM_153321.3:c.448G>T