Canonical Allele Identifier: PA2573303035
Gene: BIN1 HGNC NCBI
ClinVar RCV:
RCV001912829
ClinVar Variation:
1398238
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_647593.1:p.Gln558Lys
CA348373916
NM_139343.3:c.1672C>A