ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916016761
Gene: BTK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
530950
ClinVar RCV Id:
RCV000637055
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274273.1:p.Leu532Val
CA413923755
NM_001287344.2:c.1594C>G