Canonical Allele Identifier: PA131163
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42321
ClinVar RCV Id: RCV000035155 RCV000148497 RCV000588311 RCV000528908 RCV000777744 RCV002277119
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg976His
CA013533
NM_000138.5:c.2927G>A