Canonical Allele Identifier: PA915959689
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 684789
ClinVar RCV Id: RCV000845335
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp1398Asn
CA392319987
NM_000138.5:c.4192G>A