ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828079796
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_001350074.1:p.Glu383Lys
CA4912724
NM_001363145.1:c.1147G>A