Canonical Allele Identifier: PA658825932
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 547313
ClinVar RCV Id: RCV000659531 RCV003485624
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ser1235Pro
CA392324311
NM_000138.5:c.3703T>C