ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA320329
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213380
ClinVar RCV Id:
RCV000195945
RCV001853148
RCV002315589
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Arg263Trp
CA320328
NM_001999.4:c.787C>T