ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573061446
Gene: FBN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Ala2614Thr
CA392323423
NM_000138.5:c.7840G>A