ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825058247
Gene: FBN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2682337
ClinVar RCV Id:
RCV003479710
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Asp1267Gly
CA392323755
NM_000138.5:c.3800A>G