ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645464536
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411830
ClinVar RCV Id:
RCV000474036
RCV001764448
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Thr384Met
CA3395870
NM_001999.4:c.1151C>T