ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830280501
Gene: BIN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1398238
ClinVar RCV Id:
RCV001912829
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_647597.1:p.Gln483Lys
CA348373916
NM_139347.3:c.1447C>A