ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580529076
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2111792
ClinVar RCV Id:
RCV003046166
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_696997.1:p.Val141Met
CA288864491
NM_153322.3:c.421G>A