Canonical Allele Identifier: PA658825893
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1068Arg
CA392327840
NM_000138.5:c.3202T>C
CA2695220337
NM_000138.5:c.3202_3204delinsCGG