ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827049217
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_001307563.1:p.Gln350Lys
CA348373916
NM_001320634.1:c.1048C>A