Canonical Allele Identifier: PA126527
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16443
ClinVar RCV Id: RCV000017905 RCV000631963 RCV000590660
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1127Ser
CA014015
NM_000138.5:c.3379G>A