Canonical Allele Identifier: PA282251
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42386
ClinVar RCV Id: RCV000035228 RCV000588088 RCV001798075
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1838Cys
CA015847
NM_000138.5:c.5512G>T