ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645462554
Gene: NAGS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
323443
ClinVar RCV Id:
RCV000306308
RCV002522976
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_694551.1:p.Ala39Val
CA10649351
NM_153006.3:c.116C>T