Canonical Allele Identifier: PA246936
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198345
ClinVar RCV Id: RCV000179634 RCV000724342 RCV001180301 RCV001475865 RCV003996583
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ala2655Val
CA017483
NM_000138.5:c.7964C>T