Canonical Allele Identifier: PA304088
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200008
ClinVar RCV Id: RCV000181473 RCV000586105 RCV000549578 RCV000663591 RCV001374767 RCV002310746
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly985Arg
CA013585
NM_000138.5:c.2953G>A
CA392329500
NM_000138.5:c.2953G>C