ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA117230
Gene: AAAS
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_056480.1:p.Leu430Phe
NM_015665.6:c.1288C>T