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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.[Ser2855_Asp2860delinsValVal;Leu2862_Lys2865delinsTrpValIle;Gln2867Ter]
CA2580089543
NM_000138.5:c.8562del