ClinGen Allele Registry
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Canonical Allele Identifier:
PA658670402
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000542007
RCV001797099
ClinVar Variation:
458732
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Ser445Gly
CA3395820
NM_001999.4:c.1333A>G