ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580378551
Gene: AAAS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056480.1:p.Ala506Gly
CA6598807
NM_015665.6:c.1517C>G