Canonical Allele Identifier: PA304190
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200064
ClinVar RCV Id: RCV000181544 RCV000702613 RCV001176350 RCV003105811
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1815Ser
CA015829
NM_000138.5:c.5443G>A