Canonical Allele Identifier: PA2825059591
Gene: FBN1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2232Gly
CA392333391
NM_000138.5:c.6694T>G