Canonical Allele Identifier: PA282296
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42443
ClinVar RCV Id: RCV000035289 RCV000631997 RCV000844629
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Tyr2793Cys
CA017709
NM_000138.5:c.8378A>G