ClinGen Allele Registry
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Canonical Allele Identifier:
PA645465090
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426549
ClinVar RCV Id:
RCV000489631
RCV002383939
RCV002526022
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Gln2421Arg
CA3394170
NM_001999.4:c.7262A>G