Canonical Allele Identifier: PA645405102
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406277
ClinVar RCV Id: RCV001383172 RCV003480638
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1389Ser
CA16614806
NM_000138.5:c.4166G>C
CA392320164
NM_000138.5:c.4165T>A