Canonical Allele Identifier: PA645405873
Gene: FBN1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly2091Asp
CA10583240
NM_000138.5:c.6272G>A