ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658800998
Gene: FBN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Glu2742Lys
CA059778
NM_000138.5:c.8224G>A