ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139732952
Gene: AUTS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056385.1:p.Pro1139Leu
CA4281333
NM_015570.4:c.3416C>T