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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:
PA2826066983
Gene: SATB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
427210
ClinVar RCV Id:
RCV000489186
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165980.1:p.Gly392Glu
CA350386590
NM_001172509.2:c.1175G>A