ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA250388
Gene: PNPT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
209184
ClinVar RCV Id:
RCV000191120
RCV001705075
RCV003147393
RCV002517033
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149100.2:p.Thr531Arg
CA250387
NM_033109.5:c.1592C>G