Canonical Allele Identifier: PA304254
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200100
ClinVar RCV Id: RCV000695545 RCV000663920 RCV003528148 RCV000781372
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg2335Trp
CA016924
NM_000138.5:c.7003C>T