ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825566389
Gene: SEPTIN9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2779051
ClinVar RCV Id:
RCV003663363
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001106965.1:p.Arg69His
CA401205748
NM_001113493.2:c.206G>A