Canonical Allele Identifier: PA304160
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200049
ClinVar RCV Id: RCV000181525 RCV002245986 RCV002282007 RCV002516838
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1507Asp
CA015156
NM_000138.5:c.4520G>A