Canonical Allele Identifier: PA282205
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42347
ClinVar RCV Id: RCV000035186
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1350Ser
CA014710
NM_000138.5:c.4048T>A
CA392320479
NM_000138.5:c.4049G>C