ClinGen Allele Registry
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Canonical Allele Identifier:
PA320890
Gene: FBN2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000196474
RCV000465479
RCV002277535
RCV002315592
RCV003430751
ClinVar Variation:
213409
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Thr1416Ala
CA320889
NM_001999.4:c.4246A>G