ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829061409
Gene: BSCL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
476810
ClinVar RCV Id:
RCV000536990
RCV000789082
RCV001270682
RCV002284966
RCV003311850
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372956.1:p.Ser154Trp
CA380968385
NM_001386027.1:c.461C>G