Canonical Allele Identifier: PA658661276
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 449436
ClinVar RCV Id: RCV000521679 RCV000663918
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2318Tyr
CA392330600
NM_000138.5:c.6953G>A