ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA095354
Gene: PNPT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000033023
ClinVar Variation:
39802
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149100.2:p.Glu475Gly
CA130567
NM_033109.5:c.1424A>G