Canonical Allele Identifier: PA2830279575
Gene: BIN1 HGNC NCBI
ClinVar RCV:
RCV001886619
ClinVar Variation:
1388319
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_647594.1:p.Ala484Val
CA348374272
NM_139344.3:c.1451C>T