ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825805525
Gene: PPT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
56220
ClinVar RCV Id:
RCV000049631
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136076.1:p.Leu202Pro
CA263559
NM_001142604.2:c.605T>C