Canonical Allele Identifier: PA645405868
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406303
ClinVar RCV Id: RCV001377771
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2070Phe
CA16614630
NM_000138.5:c.6209G>T