ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826607818
Gene: BFSP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
242475
ClinVar RCV Id:
RCV001322549
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265535.1:p.Ile132Thr
CA057949
NM_001278606.2:c.395T>C