ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825060457
Gene: FBN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1928415
ClinVar RCV Id:
RCV002614521
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Ser2833Gly
CA392318798
NM_000138.5:c.8497A>G