Canonical Allele Identifier: PA210737
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16440
ClinVar RCV Id: RCV000017902 RCV000029732 RCV000181647 RCV000626614 RCV001000178 RCV001201375 RCV001798007 RCV002496395
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg122Cys
CA014381
NM_000138.5:c.364C>T