Canonical Allele Identifier: PA658825953
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549210
ClinVar RCV Id: RCV000663697

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ser1375Arg
CA392320299
NM_000138.5:c.4125C>G
CA392320300
NM_000138.5:c.4125C>A
CA392320306
NM_000138.5:c.4123A>C