Canonical Allele Identifier: PA1139674479
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 920777
ClinVar RCV Id: RCV001179732

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gln1376His
CA392320291
NM_000138.5:c.4128G>C
CA392320292
NM_000138.5:c.4128G>T