Canonical Allele Identifier: PA658825930
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549181
ClinVar RCV Id: RCV000663660 RCV000788488
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Tyr1219Cys
CA392324453
NM_000138.5:c.3656A>G