ClinGen Allele Registry
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Canonical Allele Identifier:
PA645510427
Gene: FBN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
433560
ClinVar RCV:
RCV000507032
RCV001176834
RCV001857268
RCV002481638
RCV004003558
RCV004535641
ClinVar Variation:
439715
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Arg743His
CA047216
NM_000138.5:c.2228G>A