Canonical Allele Identifier: PA658660914
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457207
ClinVar RCV Id: RCV000542755 RCV000663712
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1431Trp
CA269519916
NM_000138.5:c.4293C>G