Canonical Allele Identifier: PA645464889
Gene: FBN2 HGNC NCBI
ClinVar RCV:
RCV000475898
ClinVar Variation:
411835
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Pro1429Thr
CA16611686
NM_001999.4:c.4285C>A