ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826731686
Gene: NAPRT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2354303
ClinVar RCV Id:
RCV004192778
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001273758.1:p.Leu486Met
CA187546895
NM_001286829.2:c.1456C>A