Canonical Allele Identifier: PA1139676302
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 840655
ClinVar RCV Id: RCV001042697
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Phe2044Val
CA392338092
NM_000138.5:c.6130T>G