Canonical Allele Identifier: PA915959381
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys875Ser
CA392332344
NM_000138.5:c.2624G>C
CA392332363
NM_000138.5:c.2623T>A