Canonical Allele Identifier: PA304020
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 199973
ClinVar RCV Id: RCV000181436 RCV000533269 RCV000663472
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp530Gly
CA012303
NM_000138.5:c.1589A>G