ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA320256
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213417
ClinVar RCV Id:
RCV000195870
RCV001493386
RCV002354549
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Gly2025Ser
CA320255
NM_001999.4:c.6073G>A