Canonical Allele Identifier: PA282201
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42345

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1334Asp
CA014688
NM_000138.5:c.4001G>A