Canonical Allele Identifier: PA304116
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200022
ClinVar RCV Id: RCV000181493 RCV000659532 RCV000763355 RCV000808826 RCV001192801 RCV001176349
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp1238Asn
CA014476
NM_000138.5:c.3712G>A