ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645465068
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
263964
ClinVar RCV Id:
RCV002310933
RCV001859454
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Arg2330Lys
CA10587602
NM_001999.4:c.6989G>A