Canonical Allele Identifier: PA658800702
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 527144
ClinVar RCV Id: RCV000631904 RCV001188154 RCV002507063 RCV004003813
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp1448Asn
CA052708
NM_000138.5:c.4342G>A