Canonical Allele Identifier: PA891845429
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 570431
ClinVar RCV Id: RCV000691301 RCV002360740
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Lys2261Asn
CA057409
NM_000138.5:c.6783A>C
CA392332607
NM_000138.5:c.6783A>T