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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741956739
Gene: AUTS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2576098
ClinVar RCV Id:
RCV003322159
RCV004334065
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056385.1:p.Val667Ile
CA160034317
NM_015570.4:c.1999G>A