ClinGen Allele Registry
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Canonical Allele Identifier:
PA645465154
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000251288
RCV002518998
ClinVar Variation:
263810
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Gln2838Arg
CA3393796
NM_001999.4:c.8513A>G