Canonical Allele Identifier: PA658826101
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2470Tyr
CA392327768
NM_000138.5:c.7409G>A
CA2499222963
NM_000138.5:c.7409_7410delinsAT