Canonical Allele Identifier: PA2825059236
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn1975Lys
CA392339891
NM_000138.5:c.5925T>G
CA392339892
NM_000138.5:c.5925T>A