ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA126531
Gene: FBN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16447
ClinVar RCV Id:
RCV000017910
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Asn1131Tyr
CA014044
NM_000138.5:c.3391A>T