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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:
PA2828553706
Gene: ARID1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1290514
ClinVar RCV Id:
RCV001716628
RCV001821961
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361749.1:p.Pro1571Ser
CA4067719
NM_001374820.1:c.4711C>T