ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741887560
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2716531
ClinVar RCV Id:
RCV003526693
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Ser878Leu
CA3395490
NM_001999.4:c.2633C>T