ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828490297
Gene: BCS1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
551946
ClinVar RCV Id:
RCV000667122
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358382.1:p.Lys183del
CA65811806
NM_001371453.1:c.547_549del