Canonical Allele Identifier: PA658661057
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 449439
ClinVar RCV Id: RCV000663779 RCV000521486 RCV001851486 RCV002314906
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1791Arg
CA392346026
NM_000138.5:c.5371T>C