Canonical Allele Identifier: PA131179
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42339
ClinVar RCV Id: RCV000035177 RCV001798073 RCV002513351
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp1197Asn
CA014319
NM_000138.5:c.3589G>A