Canonical Allele Identifier: PA295237
Gene: FBN1 HGNC NCBI

Linked Data


Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000129.3:p.Gly343Arg
NM_000138.5:c.1027G>A

NM_000138.5:c.1027G>C