ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829801907
Gene: AUTS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056385.1:p.Ser1003Leu
CA4281240
NM_015570.4:c.3008C>T