ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828079817
Gene: NAPRT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3175295
ClinVar RCV Id:
RCV004466624
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350075.1:p.Glu182Lys
CA4912724
NM_001363146.1:c.544G>A