ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645405079
Gene: FBN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
429778
ClinVar RCV Id:
RCV000492802
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Cys1380Arg
CA392320268
NM_000138.5:c.4138T>C