ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645386264
Gene: BSCL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246509
ClinVar RCV Id:
RCV000235352
RCV000543721
RCV002418047
RCV002479947
RCV003930012
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_116056.3:p.Cys36Phe
CA6053624
NM_032667.6:c.107G>T