Canonical Allele Identifier: PA658661435
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 449653
ClinVar RCV Id: RCV000521885
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Tyr2716Cys
CA392321134
NM_000138.5:c.8147A>G