Canonical Allele Identifier: PA281813
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36083
ClinVar RCV Id: RCV000029745 RCV001189911 RCV002513249 RCV003148624
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ala162Thr
CA015441
NM_000138.5:c.484G>A