ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826623464
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1517222
ClinVar RCV Id:
RCV002027192
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268384.1:p.Ile98Val
CA288098219
NM_001281455.2:c.292A>G