Canonical Allele Identifier: PA658826051
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 547340
ClinVar RCV Id: RCV000659565 RCV003767911
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2164Tyr
CA392336264
NM_000138.5:c.6491G>A