ClinGen Allele Registry
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Canonical Allele Identifier:
PA915959768
Gene: FBN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
652226
ClinVar RCV Id:
RCV000807744
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Gly1525Asp
CA392353315
NM_000138.5:c.4574G>A