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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:
PA916016802
Gene: BTK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11387
ClinVar RCV Id:
RCV000012140
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274273.1:p.Ala641Asp
CA255842
NM_001287344.2:c.1922C>A