Canonical Allele Identifier: PA126549
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42371
ClinVar RCV Id: RCV000017937 RCV000035211 RCV003298043
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1594Asp
CA015420
NM_000138.5:c.4781G>A