Canonical Allele Identifier: PA658800928
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 527210
ClinVar RCV Id: RCV000632017
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2455Trp
CA392327946
NM_000138.5:c.7365C>G