Canonical Allele Identifier: PA645404831
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406347
ClinVar RCV Id: RCV001378408
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1140Tyr
CA16614520
NM_000138.5:c.3419G>A