ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828488801
Gene: BCS1L
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000114392
ClinVar Variation:
126497
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358376.1:p.Tyr301Asn
CA151154
NM_001371447.1:c.901T>A