Canonical Allele Identifier: PA1139674732
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 850247
ClinVar RCV Id: RCV001054375
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu1490Gly
CA392353815
NM_000138.5:c.4469A>G