ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA323569
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213393
ClinVar RCV Id:
RCV000199025
RCV001853149
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Cys907Arg
CA323568
NM_001999.4:c.2719T>C