ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA325397
Gene: FBN2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000200812
RCV000291146
RCV002277533
ClinVar Variation:
213388
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Arg394His
CA325396
NM_001999.4:c.1181G>A