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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:
PA2828552997
Gene: ARID1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1307341
ClinVar RCV Id:
RCV001760759
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361749.1:p.Gln342Arg
CA366382848
NM_001374820.1:c.1025A>G