Canonical Allele Identifier: PA1139674226
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 931716
ClinVar RCV Id: RCV001198578

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ser1218Arg
CA392324463
NM_000138.5:c.3654C>G
CA392324464
NM_000138.5:c.3654C>A
CA392324477
NM_000138.5:c.3652A>C