ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA304282
Gene: FBN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
200115
ClinVar RCV Id:
RCV000181605
RCV000663960
RCV000470534
RCV004539702
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Cys2511Arg
CA017244
NM_000138.5:c.7531T>C