Canonical Allele Identifier: PA281773
Gene: FBN1 HGNC NCBI
ClinVar RCV:
RCV000029705
ClinVar Variation:
36045
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ala686Asp
CA012756
NM_000138.5:c.2057C>A