Canonical Allele Identifier: PA645403585
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406316
ClinVar RCV Id: RCV000458251 RCV000729437 RCV001194180 RCV001170560 RCV004000735
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ala42Pro
CA044063
NM_000138.5:c.124G>C