Canonical Allele Identifier: PA658825929
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549180
ClinVar RCV Id: RCV000706570 RCV000663659
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1217Asp
CA392324483
NM_000138.5:c.3650G>A