Canonical Allele Identifier: PA645406327
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406317
ClinVar RCV Id: RCV000465552 RCV002393094
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2509Gly
CA16614786
NM_000138.5:c.7525T>G