Canonical Allele Identifier: PA2825058198
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3071378
ClinVar RCV Id: RCV004014880

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Met1230Ile
CA269527102
NM_000138.5:c.3690G>A
CA392324342
NM_000138.5:c.3690G>T
CA392324343
NM_000138.5:c.3690G>C