Canonical Allele Identifier: PA658692896
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly2367Arg
CA057916
NM_000138.5:c.7099G>A
CA392329823
NM_000138.5:c.7099G>C