ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916020232
Gene: PLP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11084
ClinVar RCV Id:
RCV000011833
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001291933.1:p.His85Tyr
CA255699
NM_001305004.1:c.253C>T