ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573163027
Gene: FBN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1325482
ClinVar RCV Id:
RCV002246094
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Pro886_Cys890del
CA2573150798
NM_000138.5:c.2657_2671del