ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA324735
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213258
ClinVar RCV Id:
RCV000796581
RCV001786339
RCV002277515
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Val2844Ile
CA324734
NM_001999.4:c.8530G>A