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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:
PA2580218585
Gene: ARID1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1981281
ClinVar RCV Id:
RCV002751387
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350654.1:p.Pro779Leu
CA366241763
NM_001363725.2:c.2336C>T