ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830297408
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_689541.1:p.Ile228Thr
CA7373811
NM_152328.4:c.683T>C