Canonical Allele Identifier: PA281821
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36092
ClinVar RCV Id: RCV000029754 RCV001208967
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp1891His
CA015930
NM_000138.5:c.5671G>C