ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825600825
Gene: AUTS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2987231
ClinVar RCV Id:
RCV003848870
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120704.1:p.Pro67Leu
CA367703054
NM_001127232.3:c.200C>T