Canonical Allele Identifier: PA304328
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200140
ClinVar RCV Id: RCV000181641 RCV001535800 RCV000812218 RCV002444730 RCV002466462 RCV002485197
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly77Arg
CA012938
NM_000138.5:c.229G>A
CA392448234
NM_000138.5:c.229G>C