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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:
PA645454339
Gene: BTK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
381632
ClinVar RCV Id:
RCV000432214
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000052.1:p.Thr602Ile
CA16608229
NM_000061.3:c.1805C>T