ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825600739
Gene: AUTS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2439435
ClinVar RCV Id:
RCV003143704
RCV003778827
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120703.1:p.Ala1191Thr
CA4281395
NM_001127231.3:c.3571G>A