Canonical Allele Identifier: PA645404343
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406322
ClinVar RCV Id: RCV001382199
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys790Phe
CA16614825
NM_000138.5:c.2369G>T