ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825058437
Gene: FBN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2924216
ClinVar RCV Id:
RCV003785966
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Thr1403Ile
CA392319836
NM_000138.5:c.4208C>T