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Canonical Allele Identifier: Get Identifier
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453958.2:p.[Ala1569_Trp1570delinsPro;Thr1572_Met1576delinsValLeuLeuValArg;Pro1578_Ala1579del;Asn1581_Ile1587delinsLeu;Cys1589_Asn1598del]
CA2695220588
ENST00000559133.6:c.4704del