Canonical Allele Identifier: PA1139674984
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 925889
ClinVar RCV Id: RCV001188064 RCV004010258
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Thr1547Arg
CA392353069
NM_000138.5:c.4640C>G