Canonical Allele Identifier: PA101629
Gene: FBN2 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Asn1259Lys
CA281519
NM_001999.4:c.3777T>A
CA360758047
NM_001999.4:c.3777T>G