Canonical Allele Identifier: PA658825954
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 547318
ClinVar RCV Id: RCV000659539
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn1382Ile
CA392320244
NM_000138.5:c.4145A>T