Canonical Allele Identifier: PA282255
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42390
ClinVar RCV Id: RCV000035232
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn1907Lys
CA015998
NM_000138.5:c.5721C>G
CA392341284
NM_000138.5:c.5721C>A