Canonical Allele Identifier: PA281789
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36055
ClinVar RCV Id: RCV000029715
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys89Ser
CA013283
NM_000138.5:c.266G>C
CA392447121
NM_000138.5:c.265T>A