Canonical Allele Identifier: PA131203
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42370
ClinVar RCV Id: RCV000035210 RCV000515425 RCV000632070 RCV000777948 RCV001374849 RCV001703452 RCV002277122
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu1584Lys
CA015412
NM_000138.5:c.4750G>A