ClinGen Allele Registry
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Canonical Allele Identifier:
PA3057491059
Gene: FBN2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV005054919
ClinVar Variation:
3602514
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Cys1281Tyr
CA360757904
NM_001999.4:c.3842G>A