Canonical Allele Identifier: PA282199
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42344
ClinVar RCV Id: RCV000035182 RCV000181498 RCV001852709
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1296Arg
CA014615
NM_000138.5:c.3886T>C