Canonical Allele Identifier: PA304072
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200000
ClinVar RCV Id: RCV000556229 RCV000663561 RCV000769644 RCV001269745
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly880Ser
CA013249
NM_000138.5:c.2638G>A