ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829645498
Gene: SEPTIN9
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006631.2:p.Thr189Ala
CA8793254
NM_006640.5:c.565A>G