Canonical Allele Identifier: PA346349
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 180357
ClinVar RCV Id: RCV000157231 RCV001850179
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Phe1954Cys
CA016122
NM_000138.5:c.5861T>G