ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827050286
Gene: BIN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1388319
ClinVar RCV Id:
RCV001886619
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307571.1:p.Ala500Val
CA348374272
NM_001320642.1:c.1499C>T