ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916043994
Gene: PPT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198413
ClinVar RCV Id:
RCV000179745
RCV000670818
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350624.1:p.Ser241Leu
CA247056
NM_001363695.2:c.722C>T