ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916053751
Gene: NAGS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
708226
ClinVar RCV Id:
RCV000879447
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_694551.1:p.Ala314Thr
CA8595279
NM_153006.3:c.940G>A