ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825600041
Gene: AUTS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120703.1:p.Gln416Arg
CA4280607
NM_001127231.3:c.1247A>G