Canonical Allele Identifier: PA2825059635
Gene: FBN1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2251Trp
CA392332864
NM_000138.5:c.6753T>G