ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830279593
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_647594.1:p.Gln515Lys
CA348373916
NM_139344.3:c.1543C>A