Canonical Allele Identifier: PA2499228757
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn1131Lys
CA392326506
NM_000138.5:c.3393C>G
CA392326508
NM_000138.5:c.3393C>A