ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA325355
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213391
ClinVar RCV Id:
RCV000200771
RCV001296985
RCV003165447
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Arg703His
CA325354
NM_001999.4:c.2108G>A