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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:
PA2826742884
Gene: BTK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2737283
ClinVar RCV Id:
RCV003513678
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274274.1:p.Tyr455Ter
CA2695235334
NM_001287345.2:c.1365_1366del