Canonical Allele Identifier: PA131197
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42367
ClinVar RCV Id: RCV000035207 RCV000307321 RCV000268396 RCV000303714 RCV000396472 RCV000323350 RCV000358405 RCV000366645 RCV000354806 RCV000559382 RCV001509492 RCV004534731
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Thr1547Ile
CA015264
NM_000138.5:c.4640C>T