ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830280042
Gene: BIN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_647596.1:p.Glu293Lys
CA1857232
NM_139346.3:c.877G>A