ClinGen Allele Registry
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Canonical Allele Identifier:
PA645464968
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
424450
ClinVar RCV Id:
RCV000484526
RCV002279250
RCV002526987
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Asn1894Ser
CA3394619
NM_001999.4:c.5681A>G