ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA319217
Gene: TPP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207595
ClinVar RCV Id:
RCV000189794
RCV001274536
RCV002399705
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000382.3:p.Leu515Phe
CA319216
NM_000391.4:c.1543C>T