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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.Ser1550Arg
CA392353048
ENST00000674301.2:c.4650C>G
CA392353049
ENST00000674301.2:c.4650C>A
CA392353054
ENST00000674301.2:c.4648A>C