Canonical Allele Identifier: PA1139676026
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 924129

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gln1955His
CA392340035
NM_000138.5:c.5865G>T
CA392340036
NM_000138.5:c.5865G>C