Canonical Allele Identifier: PA658660322
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457157
ClinVar RCV Id: RCV000557419
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys360Tyr
CA392347507
NM_000138.5:c.1079G>A