Canonical Allele Identifier: PA131177
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36067
ClinVar RCV Id: RCV000029728 RCV000035176 RCV000631909 RCV001119598 RCV001121593 RCV001119599 RCV001119600 RCV001119601 RCV002477020
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.His1187Arg
CA014274
NM_000138.5:c.3560A>G