Canonical Allele Identifier: PA2825059644
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2940505
ClinVar RCV Id: RCV003799815
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2258Ser
CA392332706
NM_000138.5:c.6773G>C
CA392332720
NM_000138.5:c.6772T>A