ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825057459
Gene: FBN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2500028
ClinVar RCV Id:
RCV003224675
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Thr655Ile
CA392338885
NM_000138.5:c.1964C>T