ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825589268
Gene: ADSS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001117.2:p.Leu49Val
CA40448542
NM_001126.5:c.145C>G