ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658825870
Gene: FBN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000663574
ClinVar Variation:
549107
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Cys908Phe
CA392331591
NM_000138.5:c.2723G>T