Canonical Allele Identifier: PA2573163141
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1221Ser
CA392324425
NM_000138.5:c.3662G>C
CA392324431
NM_000138.5:c.3661T>A