Canonical Allele Identifier: PA2825058380
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2121178
ClinVar RCV Id: RCV003049031
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp1363Tyr
CA392320395
NM_000138.5:c.4087G>T