Canonical Allele Identifier: PA645403997
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406350
ClinVar RCV Id: RCV000461687 RCV000588474
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Val412Asp
CA044042
NM_000138.5:c.1235T>A