Canonical Allele Identifier: PA645405169
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Val1436Leu
CA392317608
NM_000138.5:c.4306G>T
CA392317611
NM_000138.5:c.4306G>C