ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830466568
Gene: PLP1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000011840
ClinVar Variation:
11091
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_955772.1:p.Ala207Val
CA121357
NM_199478.3:c.620C>T