Canonical Allele Identifier: PA1139676022
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 834675
ClinVar RCV Id: RCV001035411 RCV001183755 RCV002497355 RCV004004693
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ile1948Val
CA055746
NM_000138.5:c.5842A>G