Canonical Allele Identifier: PA658660903
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 449440
ClinVar RCV Id: RCV000523636 RCV002329234 RCV003476880 RCV002527577
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Tyr1427Cys
CA392317779
NM_000138.5:c.4280A>G