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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.Cys1942Ser
CA10587808
ENST00000316623.9:c.5825G>C
CA392340127
ENST00000316623.9:c.5824T>A