Canonical Allele Identifier: PA645406562
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406312
ClinVar RCV Id: RCV000471343 RCV000587559 RCV001177373 RCV002481398 RCV003155187 RCV004000734
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn2767Ser
CA059904
NM_000138.5:c.8300A>G