Canonical Allele Identifier: PA658825948
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549202
ClinVar RCV Id: RCV000663686
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ser1349Thr
CA392320485
NM_000138.5:c.4046G>C