ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645464740
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
350783
ClinVar RCV Id:
RCV000372584
RCV000756154
RCV002436213
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Asn968Asp
CA3395397
NM_001999.4:c.2902A>G