Canonical Allele Identifier: PA658800842
Gene: FBN1 HGNC NCBI
ClinVar RCV:
RCV000631911
ClinVar Variation:
527145
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2053Tyr
CA392337901
NM_000138.5:c.6158G>A