Canonical Allele Identifier: PA186066
Gene: FBN2 HGNC NCBI
ClinVar RCV:
RCV000162150
ClinVar Variation:
183327
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Gly355Asp
CA186065
NM_001999.4:c.1064G>A