Canonical Allele Identifier: PA645403986
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 263638
ClinVar RCV Id: RCV000631989 RCV001660387 RCV003999026 RCV001188119
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn386Lys
CA043875
NM_000138.5:c.1158C>G
CA392345719
NM_000138.5:c.1158C>A