ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658670461
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450715
ClinVar RCV Id:
RCV000520100
RCV002420314
RCV001240363
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Pro733Arg
CA3395618
NM_001999.4:c.2198C>G