Canonical Allele Identifier: PA658654005
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 446121
ClinVar RCV Id: RCV000515134
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys628Phe
CA392339112
NM_000138.5:c.1883G>T