ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826837179
Gene: SEPTIN9
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280625.1:p.Glu343Lys
CA8793914
NM_001293696.2:c.1027G>A