Canonical Allele Identifier: PA1139674928
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 963073
ClinVar RCV Id: RCV001237045
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Leu1536Trp
CA392353136
NM_000138.5:c.4607T>G