Canonical Allele Identifier: PA915959365
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys832Ser
CA392334412
NM_000138.5:c.2495G>C
CA392334419
NM_000138.5:c.2494T>A