ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741887555
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2682904
ClinVar RCV Id:
RCV003481771
RCV003641103
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Asn863Ser
CA3395494
NM_001999.4:c.2588A>G