ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826090564
Gene: AAAS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166937.1:p.Ala473Gly
CA6598807
NM_001173466.2:c.1418C>G