ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830280526
Gene: BIN1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001363597
ClinVar Variation:
1054998
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_647597.1:p.Arg516Gly
CA348373315
NM_139347.3:c.1546A>G