Canonical Allele Identifier: PA282203
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1339Ser
CA014696
NM_000138.5:c.4016G>C
CA392320556
NM_000138.5:c.4015T>A