ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825600821
Gene: AUTS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2172974
ClinVar RCV Id:
RCV002598521
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120704.1:p.Lys56Arg
CA4280244
NM_001127232.3:c.167A>G