Canonical Allele Identifier: PA658660263
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 449605
ClinVar RCV Id: RCV000523734 RCV000618591 RCV001185070 RCV001220123 RCV001199083 RCV002481699
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn156Ser
CA053522
NM_000138.5:c.467A>G