Canonical Allele Identifier: PA1139676033
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 925249

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn1959Ser
CA055759
NM_000138.5:c.5876A>G