ClinGen Allele Registry
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Canonical Allele Identifier:
PA645464495
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411822
ClinVar RCV Id:
RCV000461031
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Arg245Gln
CA3396017
NM_001999.4:c.734G>A