ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830306708
Gene: NAGS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3173998
ClinVar RCV Id:
RCV004469295
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_694551.1:p.Asp315Asn
CA8595280
NM_153006.3:c.943G>A