ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA312359
Gene: ASS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000041.2:p.Glu129Lys
NM_000050.4:c.385G>A