ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA351840
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
222629
ClinVar RCV Id:
RCV000208190
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Asp1115Val
CA351839
NM_001999.4:c.3344A>T