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Canonical Allele Identifier: Get Identifier
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2245Ser
CA392333187
NM_000138.5:c.6734G>C
CA392333195
NM_000138.5:c.6733T>A