ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658670734
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
452397
ClinVar RCV Id:
RCV000521904
RCV001858027
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Asn2110Ser
CA127034772
NM_001999.4:c.6329A>G