Canonical Allele Identifier: PA2573163260
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1472Ser
CA392354451
NM_000138.5:c.4415G>C
CA392354461
NM_000138.5:c.4414T>A