Canonical Allele Identifier: PA281805
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36078
ClinVar RCV Id: RCV000029740 RCV000515364 RCV000524499 RCV000724901 RCV002265569 RCV002310994 RCV004532413
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg1530Cys
CA015232
NM_000138.5:c.4588C>T