ClinGen Allele Registry
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Canonical Allele Identifier:
PA658812790
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000796525
RCV002313302
ClinVar Variation:
519821
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Thr1366Ala
CA3395066
NM_001999.4:c.4096A>G