Canonical Allele Identifier: PA658661104
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457236
ClinVar RCV Id: RCV000544451

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Leu1941Phe
CA392340135
NM_000138.5:c.5821C>T