ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA320739
Gene: BCS1L
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000196315
ClinVar Variation:
214167
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004319.1:p.Arg185Trp
CA320735
NM_004328.5:c.553C>T