ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741887733
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2771608
ClinVar RCV Id:
RCV003526602
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Cys1434Tyr
CA360753976
NM_001999.4:c.4301G>A