Canonical Allele Identifier: PA304148
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200042
ClinVar RCV Id: RCV000181518 RCV002245985 RCV001852281
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp1446Asn
CA014954
NM_000138.5:c.4336G>A