ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA322826
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213308
ClinVar RCV Id:
RCV000198329
RCV001318629
RCV001265725
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Ser1148Gly
CA322825
NM_001999.4:c.3442A>G