Canonical Allele Identifier: PA645403787
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys154Ser
CA16607111
NM_000138.5:c.461G>C
CA392446382
NM_000138.5:c.460T>A