Canonical Allele Identifier: PA281858
Gene: FBN1 HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000129.3:p.Cys2633Ser
NM_000138.5:c.7897T>A

NM_000138.5:c.7898G>C