ClinGen Allele Registry
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Canonical Allele Identifier:
PA645464894
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411817
ClinVar RCV Id:
RCV000466168
RCV002056715
RCV002329074
RCV003323550
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Asp1443Val
CA3395004
NM_001999.4:c.4328A>T