Canonical Allele Identifier: PA1139676831
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly2279Arg
CA057462
NM_000138.5:c.6835G>A
CA392332147
NM_000138.5:c.6835G>C