Canonical Allele Identifier: PA324849
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213433
ClinVar RCV Id: RCV000200299 RCV001088333 RCV001818465 RCV003298254
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Arg270His
CA324848
NM_001999.4:c.809G>A