ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916052925
Gene: ASS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_446464.1:p.Arg265His
NM_054012.4:c.794G>A