Canonical Allele Identifier: PA658826058
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549354
ClinVar RCV Id: RCV000663885
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2210Ser
CA392333699
NM_000138.5:c.6629G>C
CA392333706
NM_000138.5:c.6628T>A