ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA325657
Gene: FBN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
29697
ClinVar RCV Id:
RCV000022545
RCV000255619
RCV001389174
RCV004018662
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Gly1762Ser
CA015740
NM_000138.5:c.5284G>A