ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573183321
Gene: PPT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1691870
ClinVar RCV Id:
RCV002255246
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136076.1:p.Tyr92His
CA339847740
NM_001142604.2:c.274T>C