Canonical Allele Identifier: PA2573162301
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2528Ser
CA392325784
NM_000138.5:c.7583G>C
CA392325786
NM_000138.5:c.7582T>A