ClinGen Allele Registry
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Canonical Allele Identifier:
PA658812834
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
519823
ClinVar RCV Id:
RCV000696433
RCV003144399
RCV002313304
RCV003980202
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Asp1588Val
CA3394860
NM_001999.4:c.4763A>T