ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573298761
Gene: PNPT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1423999
ClinVar RCV Id:
RCV001921332
RCV003375454
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149100.2:p.Leu156Val
CA1668456
NM_033109.5:c.466C>G