ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645464532
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
429398
ClinVar RCV Id:
RCV000493208
RCV001068745
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Ser368Leu
CA3395883
NM_001999.4:c.1103C>T