ClinGen Allele Registry
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Canonical Allele Identifier:
PA658812593
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
519813
ClinVar RCV Id:
RCV000704167
RCV002269291
RCV002313294
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Gly721Arg
CA3395621
NM_001999.4:c.2161G>C