Canonical Allele Identifier: PA2825058119
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2042296
ClinVar RCV Id: RCV002917371
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn1168Ile
CA392325227
NM_000138.5:c.3503A>T