ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645405999
Gene: FBN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Asn2144His
CA10587800
NM_000138.5:c.6430A>C