ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827048708
Gene: BIN1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001363597
ClinVar Variation:
1054998
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307561.1:p.Arg422Gly
CA348373315
NM_001320632.2:c.1264A>G