ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573069416
Gene: BTK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274273.1:p.Leu486Pro
CA413924621
NM_001287344.2:c.1457T>C