ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094315
Gene: BTK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11343
ClinVar RCV Id:
RCV000012096
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000052.1:p.Lys430Glu
CA255786
NM_000061.3:c.1288A>G