ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139678051
Gene: FBN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
924542
ClinVar RCV Id:
RCV001185915
RCV002559093
RCV004008560
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Leu2842Phe
CA060135
NM_000138.5:c.8524C>T