Canonical Allele Identifier: PA645404544
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 389343
ClinVar RCV Id: RCV000420946 RCV000546627
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys908Ser
CA16607810
NM_000138.5:c.2723G>C
CA392331596
NM_000138.5:c.2722T>A