Canonical Allele Identifier: PA1139671317
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ala52Val
CA392453448
NM_000138.5:c.155C>T
CA2499223018
NM_000138.5:c.155_156delinsTT