ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA270927
Gene: SEPTIN9
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001106967.1:p.Arg177His
CA270926
NM_001113495.1:c.530G>A