Canonical Allele Identifier: PA916016694
Gene: BTK HGNC NCBI
ClinVar RCV:
RCV000795113
ClinVar Variation:
641792
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274273.1:p.Ser48Phe
CA413939745
NM_001287344.2:c.143C>T