ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826090425
Gene: AAAS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
264991
ClinVar RCV Id:
RCV000254739
RCV001263462
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166937.1:p.Ile320Thr
CA6599005
NM_001173466.2:c.959T>C