ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741856132
Gene: BTK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274273.1:p.Cys199Tyr
CA413935069
NM_001287344.2:c.596G>A