Canonical Allele Identifier: PA323446
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213419
ClinVar RCV Id: RCV000198915 RCV000474999 RCV002363008
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Lys2112Glu
CA323445
NM_001999.4:c.6334A>G