ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827486299
Gene: PLPBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1027730
ClinVar RCV Id:
RCV001328599
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336275.1:p.Ser46Asn
CA4711140
NM_001349346.2:c.137G>A