ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825600904
Gene: AUTS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120704.1:p.Ser194Phe
CA4280349
NM_001127232.3:c.581C>T