ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA101648
Gene: NAGS
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_694551.1:p.Leu430Pro
NM_153006.3:c.1289T>C