Canonical Allele Identifier: PA645464685
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 380412
ClinVar RCV Id: RCV000438877 RCV000526169 RCV000765801 RCV002278670 RCV002446667
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Glu751Ala
CA3395597
NM_001999.4:c.2252A>C