Canonical Allele Identifier: PA658812718
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 528426
ClinVar RCV Id: RCV000633615
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Leu1187Met
CA360759292
NM_001999.4:c.3559C>A