ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580148144
Gene: AUTS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120703.1:p.Ser979Leu
CA4281240
NM_001127231.3:c.2936C>T