ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913191818
Gene: FBN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
632808
ClinVar RCV Id:
RCV000780246
RCV001295623
RCV002325482
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Gly1353Trp
CA051936
NM_000138.5:c.4057G>T