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Canonical Allele Identifier: Get Identifier
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000501333.2:p.[Gly1556Val;Ser1558_Ser1565delinsPheProLysLeuProAlaAlaVal;Gly1567_Trp1570delinsTrpValLysPro;Thr1572_Met1576delinsValLeuLeuValArg;Pro1578_Ala1579del;Asn1581_Tyr1585delinsLeuLeu]
CA2695220593
ENST00000674301.2:c.4665_4666dup