Canonical Allele Identifier: PA658690439
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 495562
ClinVar RCV Id: RCV000590722 RCV002530890
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu616Gly
CA269550127
NM_000138.5:c.1847A>G