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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:
PA2741963123
Gene: ARID1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2715345
ClinVar RCV Id:
RCV003553249
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_059989.3:p.Ala308Gly
CA366382428
NM_017519.3:c.923C>G