ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA340469
Gene: SEPTIN9
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_006631.2:p.Arg88Trp
NM_006640.5:c.262C>T