Canonical Allele Identifier: PA304336
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200144
ClinVar RCV Id: RCV000181646 RCV001181847 RCV002492803 RCV003996702 RCV001236065
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.His118Arg
CA014253
NM_000138.5:c.353A>G