ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA288815
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
129037
ClinVar RCV Id:
RCV000117018
RCV000537654
RCV000766968
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Gly721Ser
CA288814
NM_001999.4:c.2161G>A