Canonical Allele Identifier: PA131213
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42387
ClinVar RCV Id: RCV001852711 RCV002470727
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn1907Asp
CA015987
NM_000138.5:c.5719A>G