Canonical Allele Identifier: PA658800642
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 519748
ClinVar RCV Id: RCV000663656 RCV002314341 RCV001378722
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1208Phe
CA392324601
NM_000138.5:c.3623G>T