Canonical Allele Identifier: PA281838
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36109
ClinVar RCV Id: RCV000029771 RCV000769623 RCV001753430 RCV002513250 RCV003234924
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ala2324Thr
CA016873
NM_000138.5:c.6970G>A