ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA322516
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213420
ClinVar RCV Id:
RCV000198041
RCV000471326
RCV003401068
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Met2200Val
CA322515
NM_001999.4:c.6598A>G