ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825116124
Gene: PPT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2616827
ClinVar RCV Id:
RCV003369979
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000301.1:p.Gly210Val
CA339846980
NM_000310.4:c.629G>T