Canonical Allele Identifier: PA658660785
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457198
ClinVar RCV Id: RCV000528688

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1206Arg
CA392324626
NM_000138.5:c.3616G>C