ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825600188
Gene: AUTS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1696705
ClinVar RCV Id:
RCV002266835
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120703.1:p.Val571Ala
CA367669194
NM_001127231.3:c.1712T>C