ClinGen Allele Registry
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Canonical Allele Identifier:
PA645464475
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
387605
ClinVar RCV Id:
RCV000434872
RCV002313106
RCV003766340
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.His163Arg
CA16604692
NM_001999.4:c.488A>G