ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830270161
Gene: NAPRT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3175314
ClinVar RCV Id:
RCV004466643
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_660202.3:p.Val529Ala
CA372448509
NM_145201.6:c.1586T>C