Canonical Allele Identifier: PA658660271
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 449282
ClinVar RCV Id: RCV000521281 RCV000659503
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys168Phe
CA392446296
NM_000138.5:c.503G>T