Canonical Allele Identifier: PA2573163169
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1284Ser
CA392322567
NM_000138.5:c.3851G>C
CA392322573
NM_000138.5:c.3850T>A