Canonical Allele Identifier: PA2825058463
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1420Ser
CA392317898
NM_000138.5:c.4259G>C
CA392317908
NM_000138.5:c.4258T>A