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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.[Cys1574_Asn1581delinsTyr;Ser1583del;Tyr1585_Leu1588delinsValArg;Pro1590_Ile1603delinsValLeuLeu]
CA2504554227
ENST00000559133.6:c.4720_4721insACACAGAA