Canonical Allele Identifier: PA645405245
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 430423
ClinVar RCV Id: RCV000494061 RCV003766783
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1461Ser
CA392354610
NM_000138.5:c.4382G>C
CA392354616
NM_000138.5:c.4381T>A