ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829368884
Gene: FBLN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284333
ClinVar RCV Id:
RCV000260006
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001987.3:p.Gly96Ser
CA10286514
NM_001996.4:c.286G>A