Canonical Allele Identifier: PA324511
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213402
ClinVar RCV Id: RCV000472155 RCV000513271 RCV002315591 RCV002277534
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Ser1280Leu
CA324510
NM_001999.4:c.3839C>T