ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573314720
Gene: ADSS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1681956
ClinVar RCV Id:
RCV002239749
RCV003138111
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_954634.1:p.Ile271Thr
CA7373811
NM_199165.2:c.812T>C