ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499228916
Gene: FBN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001369477
ClinVar Variation:
1060096
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Ser1151Phe
CA050618
NM_000138.5:c.3452C>T