Canonical Allele Identifier: PA645405992
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 418200
ClinVar RCV Id: RCV000487361 RCV002245990
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly2140Glu
CA16619944
NM_000138.5:c.6419G>A