ClinGen Allele Registry
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Canonical Allele Identifier:
PA658800594
Gene: FBN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
520494
ClinVar RCV Id:
RCV000624915
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Gly899Glu
CA392331688
NM_000138.5:c.2696G>A