Canonical Allele Identifier: PA913191799
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 630592
ClinVar RCV Id: RCV000776456
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Pro970Ser
CA049323
NM_000138.5:c.2908C>T