Canonical Allele Identifier: PA2573061517
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1314179
ClinVar RCV Id: RCV001771410 RCV003298984
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Trp366Arg
CA392347382
NM_000138.5:c.1096T>C
CA392347385
NM_000138.5:c.1096T>A