Canonical Allele Identifier: PA282290
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42429
ClinVar RCV Id: RCV000035274 RCV000181609 RCV000586498 RCV002390140 RCV000698696
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly2536Arg
CA017296
NM_000138.5:c.7606G>A
CA392325735
NM_000138.5:c.7606G>C