ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829339243
Gene: BMX
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001712.1:p.Lys181Arg
CA10354843
NM_001721.7:c.542A>G