ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645510413
Gene: FBN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
439709
ClinVar RCV Id:
RCV000508543
RCV001178179
RCV003403189
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Arg609Cys
CA045974
NM_000138.5:c.1825C>T