Canonical Allele Identifier: PA2825059700
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2948974
ClinVar RCV Id: RCV003801700

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn2293Lys
CA392330931
NM_000138.5:c.6879T>G
CA392330932
NM_000138.5:c.6879T>A