Canonical Allele Identifier: PA645404761
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 264619
ClinVar RCV Id: RCV001064425 RCV001190248
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1058Ser
CA10587836
NM_000138.5:c.3172G>A