ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826836851
Gene: SEPTIN9
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280624.1:p.Arg218Gln
CA8793269
NM_001293695.2:c.653G>A