Canonical Allele Identifier: PA282175
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42306
ClinVar RCV Id: RCV000035140
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys816Trp
CA013083
NM_000138.5:c.2448C>G