Canonical Allele Identifier: PA913191813
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Thr1277Ser
CA392323568
NM_000138.5:c.3830C>G
CA392323574
NM_000138.5:c.3829A>T