Canonical Allele Identifier: PA645406483
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406263
ClinVar RCV Id: RCV001560619 RCV001378110
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2674Arg
CA16614384
NM_000138.5:c.8020T>C