Canonical Allele Identifier: PA658691019
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Thr929Ser
CA048851
NM_000138.5:c.2785A>T
CA392330684
NM_000138.5:c.2786C>G