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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:
PA2826742895
Gene: BTK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11392
ClinVar RCV Id:
RCV000012145
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274274.1:p.Leu476Pro
CA255851
NM_001287345.2:c.1427T>C