ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658803833
Gene: BTK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000052.1:p.Leu498Val
CA413923755
NM_000061.3:c.1492C>G