ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658812871
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
528420
ClinVar RCV Id:
RCV000633609
RCV001264672
RCV002358774
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Glu2003Lys
CA127043821
NM_001999.4:c.6007G>A