Canonical Allele Identifier: PA2825058996
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1812Ser
CA392344467
NM_000138.5:c.5435G>C
CA392344471
NM_000138.5:c.5434T>A