Canonical Allele Identifier: PA101719
Gene: FBN2 HGNC NCBI
ClinVar RCV:
RCV000000556
ClinVar Variation:
527
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Cys1253Trp
CA281518
NM_001999.4:c.3759T>G