Canonical Allele Identifier: PA1139673564
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 926148
ClinVar RCV Id: RCV001188540 RCV002480627
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ile953Thr
CA392330227
NM_000138.5:c.2858T>C