Canonical Allele Identifier: PA259630
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 29699
ClinVar RCV Id: RCV000022548 RCV001262145 RCV003764623
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Tyr1696Cys
CA015611
NM_000138.5:c.5087A>G