Canonical Allele Identifier: PA658661345
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457264
ClinVar RCV Id: RCV000537261 RCV001552938
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2535Trp
CA392325736
NM_000138.5:c.7605C>G