Canonical Allele Identifier: PA2825058183
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2922624
ClinVar RCV Id: RCV003787790
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ser1215Phe
CA392324505
NM_000138.5:c.3644C>T