ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916016693
Gene: BTK
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000425259
ClinVar Variation:
379662
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274273.1:p.Ser48Tyr
CA16608230
NM_001287344.2:c.143C>A