Canonical Allele Identifier: PA645464535
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 411831
ClinVar RCV Id: RCV000461176 RCV001797091
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Pro380Leu
CA3395874
NM_001999.4:c.1139C>T