Canonical Allele Identifier: PA1139677692
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 925919
ClinVar RCV Id: RCV001188167 RCV004010265
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly2727Asp
CA392320860
NM_000138.5:c.8180G>A