ClinGen Allele Registry
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Canonical Allele Identifier:
PA281821
Gene: FBN1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000129.3:p.Asp1891His
NM_000138.5:c.5671G>C