Canonical Allele Identifier: PA1139676318
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 923481
ClinVar RCV Id: RCV001184190
ClinVar Variation Id: 1698573
ClinVar RCV Id: RCV002271850
ClinVar Variation Id: 3071534
ClinVar RCV Id: RCV004016028
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ser2049Arg
CA269530690
NM_000138.5:c.6147T>A
CA392337990
NM_000138.5:c.6147T>G
CA392338005
NM_000138.5:c.6145A>C