Canonical Allele Identifier: PA915959876
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn1893Lys
CA392341442
NM_000138.5:c.5679T>G
CA392341443
NM_000138.5:c.5679T>A