Canonical Allele Identifier: PA2825060380
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2775394
ClinVar RCV Id: RCV003528801

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn2750Thr
CA059873
NM_000138.5:c.8249A>C