Canonical Allele Identifier: PA645464878
Gene: FBN2 HGNC NCBI
ClinVar RCV:
RCV000287645
ClinVar Variation:
350773
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Asn1327Ser
CA3395077
NM_001999.4:c.3980A>G