Canonical Allele Identifier: PA645404338
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406272
ClinVar RCV Id: RCV000474029 RCV002250629
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys769Arg
CA16614664
NM_000138.5:c.2305T>C