Canonical Allele Identifier: PA2499228956
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1163574
ClinVar RCV Id: RCV001508765

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Met2692Leu
CA392321590
NM_000138.5:c.8074A>T
CA392321594
NM_000138.5:c.8074A>C