ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916020230
Gene: PLP1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000011847
ClinVar Variation:
11098
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001291933.1:p.Arg82Trp
CA255713
NM_001305004.1:c.244C>T