ClinGen Allele Registry
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Canonical Allele Identifier:
PA2741887685
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2760917
ClinVar RCV Id:
RCV003526385
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Cys1257Tyr
CA360758064
NM_001999.4:c.3770G>A