ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA324579
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213365
ClinVar RCV Id:
RCV000487517
RCV001059950
RCV004020360
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Gln2629Arg
CA324578
NM_001999.4:c.7886A>G