Canonical Allele Identifier: PA658693087
Gene: FBN1 HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000129.3:p.Asn2461Lys
NM_000138.5:c.[7382dup;7383del]

NM_000138.5:c.7383C>A

NM_000138.5:c.7383C>G