Canonical Allele Identifier: PA645404455
Gene: FBN1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly880Arg
CA16614821
NM_000138.5:c.2638G>C