ClinGen Allele Registry
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Canonical Allele Identifier:
PA282253
Gene: FBN1
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000129.3:p.Gly1863Glu
NM_000138.5:c.5588G>A