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Canonical Allele Identifier: Get Identifier
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000325527.5:p.Cys685Ser
CA392338286
ENST00000316623.9:c.2054G>C
CA392338297
ENST00000316623.9:c.2053T>A