ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499259960
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1203804
ClinVar RCV Id:
RCV001569968
RCV001866018
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Arg1307His
CA3395101
NM_001999.4:c.3920G>A