ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA304320
Gene: FBN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
197571
ClinVar RCV:
RCV000181637
RCV001178820
RCV001362745
RCV002485196
RCV003996701
ClinVar Variation:
200136
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Lys2851Glu
CA017816
NM_000138.5:c.8551A>G