Canonical Allele Identifier: PA1139674882
Gene: FBN1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg1530Ser
CA392353179
NM_000138.5:c.4588C>A