Canonical Allele Identifier: PA126525
Gene: FBN1 HGNC NCBI
ClinVar RCV:
RCV000017900
ClinVar Variation:
16438
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1074Arg
CA013911
NM_000138.5:c.3220T>C