Canonical Allele Identifier: PA2573061458
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys623Ser
CA392339145
NM_000138.5:c.1868G>C
CA392339149
NM_000138.5:c.1867T>A