ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499228792
Gene: FBN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1072290
ClinVar RCV Id:
RCV001384974
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Cys1348Arg
CA392320496
NM_000138.5:c.4042T>C